Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.111997346T>A | CA348231050 | MERTK | c.1474T>A (p.Ser492Thr) c.946T>A (p.Ser316Thr) c.*947T>A (n.*947T>A) c.443T>A (p.Phe148Tyr) c.1285T>A (p.Ser429Thr) c.259T>A (p.Ser87Thr) | |
2 | g.111997346T>C | CA348231052 | MERTK | c.1474T>C (p.Ser492Pro) c.946T>C (p.Ser316Pro) c.*947T>C (n.*947T>C) c.443T>C (p.Phe148Ser) c.1285T>C (p.Ser429Pro) c.259T>C (p.Ser87Pro) | |
2 | g.111997346T>G | CA348231054 | MERTK | c.1474T>G (p.Ser492Ala) c.946T>G (p.Ser316Ala) c.*947T>G (n.*947T>G) c.443T>G (p.Phe148Cys) c.1285T>G (p.Ser429Ala) c.259T>G (p.Ser87Ala) | |
2 | g.111997347C>A | CA348231059 | MERTK | c.1475C>A (p.Ser492Ter) c.947C>A (p.Ser316Ter) c.*948C>A (n.*948C>A) c.444C>A (p.Phe148Leu) c.1286C>A (p.Ser429Ter) c.260C>A (p.Ser87Ter) | |
2 | g.111997347C>G | CA348231062 | MERTK | c.1475C>G (p.Ser492Ter) c.947C>G (p.Ser316Ter) c.*948C>G (n.*948C>G) c.444C>G (p.Phe148Leu) c.1286C>G (p.Ser429Ter) c.260C>G (p.Ser87Ter) | |
2 | g.111997347C>T | CA348231057 | MERTK | c.1475C>T (p.Ser492Leu) c.947C>T (p.Ser316Leu) c.*948C>T (n.*948C>T) c.444C>T (p.Phe148=) c.1286C>T (p.Ser429Leu) c.260C>T (p.Ser87Leu) | |
2 | g.111997348A>C | CA348231065 | MERTK | c.1476A>C (p.Ser492=) c.948A>C (p.Ser316=) c.*949A>C (n.*949A>C) c.445A>C (p.Asn149His) c.1287A>C (p.Ser429=) c.261A>C (p.Ser87=) | |
2 | g.111997348A>G | CA348231067 | MERTK | c.1476A>G (p.Ser492=) c.948A>G (p.Ser316=) c.*949A>G (n.*949A>G) c.445A>G (p.Asn149Asp) c.1287A>G (p.Ser429=) c.261A>G (p.Ser87=) | |
2 | g.111997348A>T | CA348231069 | MERTK | c.1476A>T (p.Ser492=) c.948A>T (p.Ser316=) c.*949A>T (n.*949A>T) c.445A>T (p.Asn149Tyr) c.1287A>T (p.Ser429=) c.261A>T (p.Ser87=) | |
2 | g.111997349dup | CA2660689213 | MERTK | c.1477dup (p.Thr493AsnfsTer?) c.949dup (p.Thr317AsnfsTer?) c.*950dup (n.*950dup) c.446dup (p.Asn149LysfsTer?) c.1288dup (p.Thr430AsnfsTer?) c.262dup (p.Thr88AsnfsTer?) | gnomAD v4 |
2 | g.111997349A= | CA1279566537 | MERTK | c.1477A= (p.Thr493=) c.949A= (p.Thr317=) c.*950A= (n.*950A=) c.446A= (p.Asn149=) c.1288A= (p.Thr430=) c.262A= (p.Thr88=) | |
2 | g.111997349A>C | CA348231072 | MERTK | c.1477A>C (p.Thr493Pro) c.949A>C (p.Thr317Pro) c.*950A>C (n.*950A>C) c.446A>C (p.Asn149Thr) c.1288A>C (p.Thr430Pro) c.262A>C (p.Thr88Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997349A>G | CA1831439 | MERTK | c.1477A>G (p.Thr493Ala) c.949A>G (p.Thr317Ala) c.*950A>G (n.*950A>G) c.446A>G (p.Asn149Ser) c.1288A>G (p.Thr430Ala) c.262A>G (p.Thr88Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997349A>T | CA348231075 | MERTK | c.1477A>T (p.Thr493Ser) c.949A>T (p.Thr317Ser) c.*950A>T (n.*950A>T) c.446A>T (p.Asn149Ile) c.1288A>T (p.Thr430Ser) c.262A>T (p.Thr88Ser) | |
2 | g.111997350C>A | CA348231081 | MERTK | c.1478C>A (p.Thr493Asn) c.950C>A (p.Thr317Asn) c.*951C>A (n.*951C>A) c.447C>A (p.Asn149Lys) c.1289C>A (p.Thr430Asn) c.263C>A (p.Thr88Asn) | |
2 | g.111997350C>G | CA348231080 | MERTK | c.1478C>G (p.Thr493Ser) c.950C>G (p.Thr317Ser) c.*951C>G (n.*951C>G) c.447C>G (p.Asn149Lys) c.1289C>G (p.Thr430Ser) c.263C>G (p.Thr88Ser) | |
2 | g.111997350C>T | CA348231077 | MERTK | c.1478C>T (p.Thr493Ile) c.950C>T (p.Thr317Ile) c.*951C>T (n.*951C>T) c.447C>T (p.Asn149=) c.1289C>T (p.Thr430Ile) c.263C>T (p.Thr88Ile) | |
2 | g.111997351T>A | CA348231083 | MERTK | c.1479T>A (p.Thr493=) c.951T>A (p.Thr317=) c.*952T>A (n.*952T>A) c.448T>A (p.Ser150Thr) c.1290T>A (p.Thr430=) c.264T>A (p.Thr88=) | |
2 | g.111997351T>C | CA348231086 | MERTK | c.1479T>C (p.Thr493=) c.951T>C (p.Thr317=) c.*952T>C (n.*952T>C) c.448T>C (p.Ser150Pro) c.1290T>C (p.Thr430=) c.264T>C (p.Thr88=) | |
2 | g.111997351T>G | CA53574347 | MERTK | c.1479T>G (p.Thr493=) c.951T>G (p.Thr317=) c.*952T>G (n.*952T>G) c.448T>G (p.Ser150Ala) c.1290T>G (p.Thr430=) c.264T>G (p.Thr88=) | dbSNP |
2 | g.111997351T= | CA1279566538 | MERTK | c.1479T= (p.Thr493=) c.951T= (p.Thr317=) c.*952T= (n.*952T=) c.448T= (p.Ser150=) c.1290T= (p.Thr430=) c.264T= (p.Thr88=) | |
2 | g.111997352C>A | CA348231089 | MERTK | c.1480C>A (p.Pro494Thr) c.952C>A (p.Pro318Thr) c.*953C>A (n.*953C>A) c.449C>A (p.Ser150Tyr) c.1291C>A (p.Pro431Thr) c.265C>A (p.Pro89Thr) | |
2 | g.111997352C>G | CA348231092 | MERTK | c.1480C>G (p.Pro494Ala) c.952C>G (p.Pro318Ala) c.*953C>G (n.*953C>G) c.449C>G (p.Ser150Cys) c.1291C>G (p.Pro431Ala) c.265C>G (p.Pro89Ala) | |
2 | g.111997352C>T | CA348231094 | MERTK | c.1480C>T (p.Pro494Ser) c.952C>T (p.Pro318Ser) c.*953C>T (n.*953C>T) c.449C>T (p.Ser150Phe) c.1291C>T (p.Pro431Ser) c.265C>T (p.Pro89Ser) | |
2 | g.111997353C>A | CA348231096 | MERTK | c.1481C>A (p.Pro494Gln) c.953C>A (p.Pro318Gln) c.*954C>A (n.*954C>A) c.450C>A (p.Ser150=) c.1292C>A (p.Pro431Gln) c.266C>A (p.Pro89Gln) | COSMIC COSMIC |
2 | g.111997353C= | CA1279566539 | MERTK | c.1481C= (p.Pro494=) c.953C= (p.Pro318=) c.*954C= (n.*954C=) c.450C= (p.Ser150=) c.1292C= (p.Pro431=) c.266C= (p.Pro89=) | |
2 | g.111997353C>G | CA348231100 | MERTK | c.1481C>G (p.Pro494Arg) c.953C>G (p.Pro318Arg) c.*954C>G (n.*954C>G) c.450C>G (p.Ser150=) c.1292C>G (p.Pro431Arg) c.266C>G (p.Pro89Arg) | |
2 | g.111997353C>T | CA1831440 | MERTK | c.1481C>T (p.Pro494Leu) c.953C>T (p.Pro318Leu) c.*954C>T (n.*954C>T) c.450C>T (p.Ser150=) c.1292C>T (p.Pro431Leu) c.266C>T (p.Pro89Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997354G>A | CA1831441 | MERTK | c.1482G>A (p.Pro494=) c.954G>A (p.Pro318=) c.*955G>A (n.*955G>A) c.451G>A (p.Gly151Ser) c.1293G>A (p.Pro431=) c.267G>A (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997354G>C | CA348231107 | MERTK | c.1482G>C (p.Pro494=) c.954G>C (p.Pro318=) c.*955G>C (n.*955G>C) c.451G>C (p.Gly151Arg) c.1293G>C (p.Pro431=) c.267G>C (p.Pro89=) | |
2 | g.111997354G= | CA1279566540 | MERTK | c.1482G= (p.Pro494=) c.954G= (p.Pro318=) c.*955G= (n.*955G=) c.451G= (p.Gly151=) c.1293G= (p.Pro431=) c.267G= (p.Pro89=) | |
2 | g.111997354G>T | CA348231110 | MERTK | c.1482G>T (p.Pro494=) c.954G>T (p.Pro318=) c.*955G>T (n.*955G>T) c.451G>T (p.Gly151Cys) c.1293G>T (p.Pro431=) c.267G>T (p.Pro89=) | |
2 | g.111997355G>A | CA348231112 | MERTK | c.1483G>A (p.Ala495Thr) c.955G>A (p.Ala319Thr) c.*956G>A (n.*956G>A) c.452G>A (p.Gly151Asp) c.1294G>A (p.Ala432Thr) c.268G>A (p.Ala90Thr) | |
2 | g.111997355G>C | CA348231114 | MERTK | c.1483G>C (p.Ala495Pro) c.955G>C (p.Ala319Pro) c.*956G>C (n.*956G>C) c.452G>C (p.Gly151Ala) c.1294G>C (p.Ala432Pro) c.268G>C (p.Ala90Pro) | |
2 | g.111997355G>T | CA348231117 | MERTK | c.1483G>T (p.Ala495Ser) c.955G>T (p.Ala319Ser) c.*956G>T (n.*956G>T) c.452G>T (p.Gly151Val) c.1294G>T (p.Ala432Ser) c.268G>T (p.Ala90Ser) | |
2 | g.111997356C>A | CA348231120 | MERTK | c.1484C>A (p.Ala495Glu) c.956C>A (p.Ala319Glu) c.*957C>A (n.*957C>A) c.453C>A (p.Gly151=) c.1295C>A (p.Ala432Glu) c.269C>A (p.Ala90Glu) | |
2 | g.111997356C= | CA1279566541 | MERTK | c.1484C= (p.Ala495=) c.956C= (p.Ala319=) c.*957C= (n.*957C=) c.453C= (p.Gly151=) c.1295C= (p.Ala432=) c.269C= (p.Ala90=) | |
2 | g.111997356C>G | CA348231122 | MERTK | c.1484C>G (p.Ala495Gly) c.956C>G (p.Ala319Gly) c.*957C>G (n.*957C>G) c.453C>G (p.Gly151=) c.1295C>G (p.Ala432Gly) c.269C>G (p.Ala90Gly) | |
2 | g.111997356C>T | CA1831442 | MERTK | c.1484C>T (p.Ala495Val) c.956C>T (p.Ala319Val) c.*957C>T (n.*957C>T) c.453C>T (p.Gly151=) c.1295C>T (p.Ala432Val) c.269C>T (p.Ala90Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997357G>A | CA1831443 | MERTK | c.1485G>A (p.Ala495=) c.957G>A (p.Ala319=) c.*958G>A (n.*958G>A) c.454G>A (p.Ala152Thr) c.1296G>A (p.Ala432=) c.270G>A (p.Ala90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997357G>C | CA348231125 | MERTK | c.1485G>C (p.Ala495=) c.957G>C (p.Ala319=) c.*958G>C (n.*958G>C) c.454G>C (p.Ala152Pro) c.1296G>C (p.Ala432=) c.270G>C (p.Ala90=) | |
2 | g.111997357G= | CA1279566542 | MERTK | c.1485G= (p.Ala495=) c.957G= (p.Ala319=) c.*958G= (n.*958G=) c.454G= (p.Ala152=) c.1296G= (p.Ala432=) c.270G= (p.Ala90=) | |
2 | g.111997357G>T | CA348231137 | MERTK | c.1485G>T (p.Ala495=) c.957G>T (p.Ala319=) c.*958G>T (n.*958G>T) c.454G>T (p.Ala152Ser) c.1296G>T (p.Ala432=) c.270G>T (p.Ala90=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.111997358C>A | CA348231138 | MERTK | c.1486C>A (p.Pro496Thr) c.958C>A (p.Pro320Thr) c.*959C>A (n.*959C>A) c.455C>A (p.Ala152Asp) c.1297C>A (p.Pro433Thr) c.271C>A (p.Pro91Thr) | |
2 | g.111997358C>G | CA348231140 | MERTK | c.1486C>G (p.Pro496Ala) c.958C>G (p.Pro320Ala) c.*959C>G (n.*959C>G) c.455C>G (p.Ala152Gly) c.1297C>G (p.Pro433Ala) c.271C>G (p.Pro91Ala) | |
2 | g.111997358C>T | CA348231139 | MERTK | c.1486C>T (p.Pro496Ser) c.958C>T (p.Pro320Ser) c.*959C>T (n.*959C>T) c.455C>T (p.Ala152Val) c.1297C>T (p.Pro433Ser) c.271C>T (p.Pro91Ser) | |
2 | g.111997359C>A | CA348231141 | MERTK | c.1487C>A (p.Pro496His) c.959C>A (p.Pro320His) c.*960C>A (n.*960C>A) c.456C>A (p.Ala152=) c.1298C>A (p.Pro433His) c.272C>A (p.Pro91His) | |
2 | g.111997359C= | CA1279566543 | MERTK | c.1487C= (p.Pro496=) c.959C= (p.Pro320=) c.*960C= (n.*960C=) c.456C= (p.Ala152=) c.1298C= (p.Pro433=) c.272C= (p.Pro91=) | |
2 | g.111997359C>G | CA348231142 | MERTK | c.1487C>G (p.Pro496Arg) c.959C>G (p.Pro320Arg) c.*960C>G (n.*960C>G) c.456C>G (p.Ala152=) c.1298C>G (p.Pro433Arg) c.272C>G (p.Pro91Arg) | |
2 | g.111997359C>T | CA1831444 | MERTK | c.1487C>T (p.Pro496Leu) c.959C>T (p.Pro320Leu) c.*960C>T (n.*960C>T) c.456C>T (p.Ala152=) c.1298C>T (p.Pro433Leu) c.272C>T (p.Pro91Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997360T>A | CA348231143 | MERTK | c.1488T>A (p.Pro496=) c.960T>A (p.Pro320=) c.*961T>A (n.*961T>A) c.457T>A (p.Trp153Arg) c.1299T>A (p.Pro433=) c.273T>A (p.Pro91=) | |
2 | g.111997360T>C | CA348231145 | MERTK | c.1488T>C (p.Pro496=) c.960T>C (p.Pro320=) c.*961T>C (n.*961T>C) c.457T>C (p.Trp153Arg) c.1299T>C (p.Pro433=) c.273T>C (p.Pro91=) | |
2 | g.111997360T>G | CA348231146 | MERTK | c.1488T>G (p.Pro496=) c.960T>G (p.Pro320=) c.*961T>G (n.*961T>G) c.457T>G (p.Trp153Gly) c.1299T>G (p.Pro433=) c.273T>G (p.Pro91=) | |
2 | g.111997361G>A | CA1831445 | MERTK | c.1489G>A (p.Gly497Ser) c.961G>A (p.Gly321Ser) c.*962G>A (n.*962G>A) c.458G>A (p.Trp153Ter) c.1300G>A (p.Gly434Ser) c.274G>A (p.Gly92Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997361G>C | CA348231158 | MERTK | c.1489G>C (p.Gly497Arg) c.961G>C (p.Gly321Arg) c.*962G>C (n.*962G>C) c.458G>C (p.Trp153Ser) c.1300G>C (p.Gly434Arg) c.274G>C (p.Gly92Arg) | |
2 | g.111997361G= | CA1279566544 | MERTK | c.1489G= (p.Gly497=) c.961G= (p.Gly321=) c.*962G= (n.*962G=) c.458G= (p.Trp153=) c.1300G= (p.Gly434=) c.274G= (p.Gly92=) | |
2 | g.111997361G>T | CA348231160 | MERTK | c.1489G>T (p.Gly497Cys) c.961G>T (p.Gly321Cys) c.*962G>T (n.*962G>T) c.458G>T (p.Trp153Leu) c.1300G>T (p.Gly434Cys) c.274G>T (p.Gly92Cys) | |
2 | g.111997362G>A | CA348231164 | MERTK | c.1490G>A (p.Gly497Asp) c.962G>A (p.Gly321Asp) c.*963G>A (n.*963G>A) c.459G>A (p.Trp153Ter) c.1301G>A (p.Gly434Asp) c.275G>A (p.Gly92Asp) | ClinVar gnomAD v4 |
2 | g.111997362G>C | CA348231165 | MERTK | c.1490G>C (p.Gly497Ala) c.962G>C (p.Gly321Ala) c.*963G>C (n.*963G>C) c.459G>C (p.Trp153Cys) c.1301G>C (p.Gly434Ala) c.275G>C (p.Gly92Ala) | |
2 | g.111997362G>T | CA348231168 | MERTK | c.1490G>T (p.Gly497Val) c.962G>T (p.Gly321Val) c.*963G>T (n.*963G>T) c.459G>T (p.Trp153Cys) c.1301G>T (p.Gly434Val) c.275G>T (p.Gly92Val) | |
2 | g.111997363C>A | CA348231174 | MERTK | c.1491C>A (p.Gly497=) c.963C>A (p.Gly321=) c.*964C>A (n.*964C>A) c.460C>A (p.Gln154Lys) c.1302C>A (p.Gly434=) c.276C>A (p.Gly92=) | |
2 | g.111997363C>G | CA348231169 | MERTK | c.1491C>G (p.Gly497=) c.963C>G (p.Gly321=) c.*964C>G (n.*964C>G) c.460C>G (p.Gln154Glu) c.1302C>G (p.Gly434=) c.276C>G (p.Gly92=) | |
2 | g.111997363C>T | CA348231171 | MERTK | c.1491C>T (p.Gly497=) c.963C>T (p.Gly321=) c.*964C>T (n.*964C>T) c.460C>T (p.Gln154Ter) c.1302C>T (p.Gly434=) c.276C>T (p.Gly92=) | dbSNP gnomAD v4 |
2 | g.111997364A>C | CA348231178 | MERTK | c.1492A>C (p.Asn498His) c.964A>C (p.Asn322His) c.*965A>C (n.*965A>C) c.461A>C (p.Gln154Pro) c.1303A>C (p.Asn435His) c.277A>C (p.Asn93His) | |
2 | g.111997364A>G | CA348231181 | MERTK | c.1492A>G (p.Asn498Asp) c.964A>G (p.Asn322Asp) c.*965A>G (n.*965A>G) c.461A>G (p.Gln154Arg) c.1303A>G (p.Asn435Asp) c.277A>G (p.Asn93Asp) | |
2 | g.111997364A>T | CA348231185 | MERTK | c.1492A>T (p.Asn498Tyr) c.964A>T (p.Asn322Tyr) c.*965A>T (n.*965A>T) c.461A>T (p.Gln154Leu) c.1303A>T (p.Asn435Tyr) c.277A>T (p.Asn93Tyr) | |
2 | g.111997365A= | CA1279566545 | MERTK | c.1493A= (p.Asn498=) c.965A= (p.Asn322=) c.*966A= (n.*966A=) c.462A= (p.Gln154=) c.1304A= (p.Asn435=) c.278A= (p.Asn93=) | |
2 | g.111997365A>C | CA348231187 | MERTK | c.1493A>C (p.Asn498Thr) c.965A>C (p.Asn322Thr) c.*966A>C (n.*966A>C) c.462A>C (p.Gln154His) c.1304A>C (p.Asn435Thr) c.278A>C (p.Asn93Thr) | |
2 | g.111997365A>G | CA1831446 | MERTK | c.1493A>G (p.Asn498Ser) c.965A>G (p.Asn322Ser) c.*966A>G (n.*966A>G) c.462A>G (p.Gln154=) c.1304A>G (p.Asn435Ser) c.278A>G (p.Asn93Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997365A>T | CA348231190 | MERTK | c.1493A>T (p.Asn498Ile) c.965A>T (p.Asn322Ile) c.*966A>T (n.*966A>T) c.462A>T (p.Gln154His) c.1304A>T (p.Asn435Ile) c.278A>T (p.Asn93Ile) | |
2 | g.111997365_111997366delinsAC | CA1279566546 | MERTK | c.1493_1494delinsAC (p.Asn498=) c.965_966delinsAC (p.Asn322=) c.*966_*967delinsAC (n.*966_*967delinsAC) c.462_463delinsAC (p.Gln154=) c.1304_1305delinsAC (p.Asn435=) c.278_279delinsAC (p.Asn93=) | |
2 | g.111997365_111997366delinsGT | CA53574375 | MERTK | c.1493_1494delinsGT (p.Asn498Ser) c.965_966delinsGT (p.Asn322Ser) c.*966_*967delinsGT (n.*966_*967delinsGT) c.462_463delinsGT (p.Arg155Cys) c.1304_1305delinsGT (p.Asn435Ser) c.278_279delinsGT (p.Asn93Ser) | ClinVar dbSNP |
2 | g.111997366C>A | CA348231193 | MERTK | c.1494C>A (p.Asn498Lys) c.966C>A (p.Asn322Lys) c.*967C>A (n.*967C>A) c.463C>A (p.Arg155Ser) c.1305C>A (p.Asn435Lys) c.279C>A (p.Asn93Lys) | |
2 | g.111997366C= | CA1279566547 | MERTK | c.1494C= (p.Asn498=) c.966C= (p.Asn322=) c.*967C= (n.*967C=) c.463C= (p.Arg155=) c.1305C= (p.Asn435=) c.279C= (p.Asn93=) | |
2 | g.111997366C>G | CA348231207 | MERTK | c.1494C>G (p.Asn498Lys) c.966C>G (p.Asn322Lys) c.*967C>G (n.*967C>G) c.463C>G (p.Arg155Gly) c.1305C>G (p.Asn435Lys) c.279C>G (p.Asn93Lys) | COSMIC |
2 | g.111997366C>T | CA1831447 | MERTK | c.1494C>T (p.Asn498=) c.966C>T (p.Asn322=) c.*967C>T (n.*967C>T) c.463C>T (p.Arg155Cys) c.1305C>T (p.Asn435=) c.279C>T (p.Asn93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997367G>A | CA1831448 | MERTK | c.1495G>A (p.Ala499Thr) c.967G>A (p.Ala323Thr) c.*968G>A (n.*968G>A) c.464G>A (p.Arg155His) c.1306G>A (p.Ala436Thr) c.280G>A (p.Ala94Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997367G>C | CA348231215 | MERTK | c.1495G>C (p.Ala499Pro) c.967G>C (p.Ala323Pro) c.*968G>C (n.*968G>C) c.464G>C (p.Arg155Pro) c.1306G>C (p.Ala436Pro) c.280G>C (p.Ala94Pro) | gnomAD v4 |
2 | g.111997367G= | CA1279566548 | MERTK | c.1495G= (p.Ala499=) c.967G= (p.Ala323=) c.*968G= (n.*968G=) c.464G= (p.Arg155=) c.1306G= (p.Ala436=) c.280G= (p.Ala94=) | |
2 | g.111997367G>T | CA348231217 | MERTK | c.1495G>T (p.Ala499Ser) c.967G>T (p.Ala323Ser) c.*968G>T (n.*968G>T) c.464G>T (p.Arg155Leu) c.1306G>T (p.Ala436Ser) c.280G>T (p.Ala94Ser) | |
2 | g.111997368C>A | CA348231221 | MERTK | c.1496C>A (p.Ala499Glu) c.968C>A (p.Ala323Glu) c.*969C>A (n.*969C>A) c.465C>A (p.Arg155=) c.1307C>A (p.Ala436Glu) c.281C>A (p.Ala94Glu) | |
2 | g.111997368C= | CA1279566549 | MERTK | c.1496C= (p.Ala499=) c.968C= (p.Ala323=) c.*969C= (n.*969C=) c.465C= (p.Arg155=) c.1307C= (p.Ala436=) c.281C= (p.Ala94=) | |
2 | g.111997368C>G | CA348231222 | MERTK | c.1496C>G (p.Ala499Gly) c.968C>G (p.Ala323Gly) c.*969C>G (n.*969C>G) c.465C>G (p.Arg155=) c.1307C>G (p.Ala436Gly) c.281C>G (p.Ala94Gly) | |
2 | g.111997368C>T | CA348231220 | MERTK | c.1496C>T (p.Ala499Val) c.968C>T (p.Ala323Val) c.*969C>T (n.*969C>T) c.465C>T (p.Arg155=) c.1307C>T (p.Ala436Val) c.281C>T (p.Ala94Val) | dbSNP gnomAD v4 |
2 | g.111997369A>C | CA428274268 | MERTK | c.1497A>C (p.Ala499=) c.969A>C (p.Ala323=) c.*970A>C (n.*970A>C) c.466A>C (p.Arg156=) c.1308A>C (p.Ala436=) c.282A>C (p.Ala94=) | |
2 | g.111997369A>G | CA348231226 | MERTK | c.1497A>G (p.Ala499=) c.969A>G (p.Ala323=) c.*970A>G (n.*970A>G) c.466A>G (p.Arg156Gly) c.1308A>G (p.Ala436=) c.282A>G (p.Ala94=) | |
2 | g.111997369A>T | CA348231224 | MERTK | c.1497A>T (p.Ala499=) c.969A>T (p.Ala323=) c.*970A>T (n.*970A>T) c.466A>T (p.Arg156Ter) c.1308A>T (p.Ala436=) c.282A>T (p.Ala94=) | |
2 | g.111997370G>A | CA348231229 | MERTK | c.1498G>A (p.Asp500Asn) c.970G>A (p.Asp324Asn) c.*971G>A (n.*971G>A) n.1G>A c.467G>A (p.Arg156Lys) c.1309G>A (p.Asp437Asn) c.283G>A (p.Asp95Asn) | |
2 | g.111997370G>C | CA348231228 | MERTK | c.1498G>C (p.Asp500His) c.970G>C (p.Asp324His) c.*971G>C (n.*971G>C) n.1G>C c.467G>C (p.Arg156Thr) c.1309G>C (p.Asp437His) c.283G>C (p.Asp95His) | |
2 | g.111997370G>T | CA348231230 | MERTK | c.1498G>T (p.Asp500Tyr) c.970G>T (p.Asp324Tyr) c.*971G>T (n.*971G>T) n.1G>T c.467G>T (p.Arg156Ile) c.1309G>T (p.Asp437Tyr) c.283G>T (p.Asp95Tyr) | |
2 | g.111997371A>C | CA348231232 | MERTK | c.1499A>C (p.Asp500Ala) c.971A>C (p.Asp324Ala) c.*972A>C (n.*972A>C) n.2A>C c.468A>C (p.Arg156Ser) c.1310A>C (p.Asp437Ala) c.284A>C (p.Asp95Ala) | |
2 | g.111997371A>G | CA348231234 | MERTK | c.1499A>G (p.Asp500Gly) c.971A>G (p.Asp324Gly) c.*972A>G (n.*972A>G) n.2A>G c.468A>G (p.Arg156=) c.1310A>G (p.Asp437Gly) c.284A>G (p.Asp95Gly) | |
2 | g.111997371A>T | CA348231236 | MERTK | c.1499A>T (p.Asp500Val) c.971A>T (p.Asp324Val) c.*972A>T (n.*972A>T) n.2A>T c.468A>T (p.Arg156Ser) c.1310A>T (p.Asp437Val) c.284A>T (p.Asp95Val) | |
2 | g.111997372T>A | CA348231238 | MERTK | c.1500T>A (p.Asp500Glu) c.972T>A (p.Asp324Glu) c.*973T>A (n.*973T>A) n.3T>A c.469T>A (p.Ser157Thr) c.1311T>A (p.Asp437Glu) c.285T>A (p.Asp95Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.111997372T>C | CA348231239 | MERTK | c.1500T>C (p.Asp500=) c.972T>C (p.Asp324=) c.*973T>C (n.*973T>C) n.3T>C c.469T>C (p.Ser157Pro) c.1311T>C (p.Asp437=) c.285T>C (p.Asp95=) | |
2 | g.111997372T>G | CA348231241 | MERTK | c.1500T>G (p.Asp500Glu) c.972T>G (p.Asp324Glu) c.*973T>G (n.*973T>G) n.3T>G c.469T>G (p.Ser157Ala) c.1311T>G (p.Asp437Glu) c.285T>G (p.Asp95Glu) | |
2 | g.111997372T= | CA1279566550 | MERTK | c.1500T= (p.Asp500=) c.972T= (p.Asp324=) c.*973T= (n.*973T=) n.3T= c.469T= (p.Ser157=) c.1311T= (p.Asp437=) c.285T= (p.Asp95=) | |
2 | g.111997373C>A | CA348231242 | MERTK | c.1501C>A (p.Pro501Thr) c.973C>A (p.Pro325Thr) c.*974C>A (n.*974C>A) n.4C>A c.470C>A (p.Ser157Tyr) c.1312C>A (p.Pro438Thr) c.286C>A (p.Pro96Thr) | |
2 | g.111997373C>G | CA348231244 | MERTK | c.1501C>G (p.Pro501Ala) c.973C>G (p.Pro325Ala) c.*974C>G (n.*974C>G) n.4C>G c.470C>G (p.Ser157Cys) c.1312C>G (p.Pro438Ala) c.286C>G (p.Pro96Ala) | gnomAD v4 |
2 | g.111997373C>T | CA348231246 | MERTK | c.1501C>T (p.Pro501Ser) c.973C>T (p.Pro325Ser) c.*974C>T (n.*974C>T) n.4C>T c.470C>T (p.Ser157Phe) c.1312C>T (p.Pro438Ser) c.286C>T (p.Pro96Ser) | COSMIC COSMIC |
2 | g.111997374C>A | CA348231247 | MERTK | c.1502C>A (p.Pro501His) c.974C>A (p.Pro325His) c.*975C>A (n.*975C>A) n.5C>A c.471C>A (p.Ser157=) c.1313C>A (p.Pro438His) c.287C>A (p.Pro96His) | |
2 | g.111997374C>G | CA348231248 | MERTK | c.1502C>G (p.Pro501Arg) c.974C>G (p.Pro325Arg) c.*975C>G (n.*975C>G) n.5C>G c.471C>G (p.Ser157=) c.1313C>G (p.Pro438Arg) c.287C>G (p.Pro96Arg) | |
2 | g.111997374C>T | CA348231250 | MERTK | c.1502C>T (p.Pro501Leu) c.974C>T (p.Pro325Leu) c.*975C>T (n.*975C>T) n.5C>T c.471C>T (p.Ser157=) c.1313C>T (p.Pro438Leu) c.287C>T (p.Pro96Leu) | gnomAD v4 |
2 | g.111997375T>A | CA348231255 | MERTK | c.1503T>A (p.Pro501=) c.975T>A (p.Pro325=) c.*976T>A (n.*976T>A) n.6T>A c.472T>A (p.Cys158Ser) c.1314T>A (p.Pro438=) c.288T>A (p.Pro96=) | |
2 | g.111997375T>C | CA348231254 | MERTK | c.1503T>C (p.Pro501=) c.975T>C (p.Pro325=) c.*976T>C (n.*976T>C) n.6T>C c.472T>C (p.Cys158Arg) c.1314T>C (p.Pro438=) c.288T>C (p.Pro96=) | |
2 | g.111997375T>G | CA348231252 | MERTK | c.1503T>G (p.Pro501=) c.975T>G (p.Pro325=) c.*976T>G (n.*976T>G) n.6T>G c.472T>G (p.Cys158Gly) c.1314T>G (p.Pro438=) c.288T>G (p.Pro96=) | |
2 | g.111997376G>A | CA53574409 | MERTK | c.1504G>A (p.Val502Met) c.976G>A (p.Val326Met) c.*977G>A (n.*977G>A) n.7G>A c.473G>A (p.Cys158Tyr) c.1315G>A (p.Val439Met) c.289G>A (p.Val97Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997376G>C | CA348231257 | MERTK | c.1504G>C (p.Val502Leu) c.976G>C (p.Val326Leu) c.*977G>C (n.*977G>C) n.7G>C c.473G>C (p.Cys158Ser) c.1315G>C (p.Val439Leu) c.289G>C (p.Val97Leu) | |
2 | g.111997376G= | CA1279566551 | MERTK | c.1504G= (p.Val502=) c.976G= (p.Val326=) c.*977G= (n.*977G=) n.7G= c.473G= (p.Cys158=) c.1315G= (p.Val439=) c.289G= (p.Val97=) | |
2 | g.111997376G>T | CA348231259 | MERTK | c.1504G>T (p.Val502Leu) c.976G>T (p.Val326Leu) c.*977G>T (n.*977G>T) n.7G>T c.473G>T (p.Cys158Phe) c.1315G>T (p.Val439Leu) c.289G>T (p.Val97Leu) | |
2 | g.111997377T>A | CA348231261 | MERTK | c.1505T>A (p.Val502Glu) c.977T>A (p.Val326Glu) c.*978T>A (n.*978T>A) n.8T>A c.474T>A (p.Cys158Ter) c.1316T>A (p.Val439Glu) c.290T>A (p.Val97Glu) | |
2 | g.111997377T>C | CA348231262 | MERTK | c.1505T>C (p.Val502Ala) c.977T>C (p.Val326Ala) c.*978T>C (n.*978T>C) n.8T>C c.474T>C (p.Cys158=) c.1316T>C (p.Val439Ala) c.290T>C (p.Val97Ala) | gnomAD v4 |
2 | g.111997377T>G | CA348231264 | MERTK | c.1505T>G (p.Val502Gly) c.977T>G (p.Val326Gly) c.*978T>G (n.*978T>G) n.8T>G c.474T>G (p.Cys158Trp) c.1316T>G (p.Val439Gly) c.290T>G (p.Val97Gly) | |
2 | g.111997378G>A | CA348231266 | MERTK | c.1506G>A (p.Val502=) c.978G>A (p.Val326=) c.*979G>A (n.*979G>A) n.9G>A c.475G>A (p.Ala159Thr) c.1317G>A (p.Val439=) c.291G>A (p.Val97=) | |
2 | g.111997378G>C | CA348231268 | MERTK | c.1506G>C (p.Val502=) c.978G>C (p.Val326=) c.*979G>C (n.*979G>C) n.9G>C c.475G>C (p.Ala159Pro) c.1317G>C (p.Val439=) c.291G>C (p.Val97=) | |
2 | g.111997378G>T | CA348231269 | MERTK | c.1506G>T (p.Val502=) c.978G>T (p.Val326=) c.*979G>T (n.*979G>T) n.9G>T c.475G>T (p.Ala159Ser) c.1317G>T (p.Val439=) c.291G>T (p.Val97=) | |
2 | g.111997379C>A | CA348231270 | MERTK | c.1507C>A (p.Leu503Ile) c.979C>A (p.Leu327Ile) c.*980C>A (n.*980C>A) n.10C>A c.476C>A (p.Ala159Asp) c.1318C>A (p.Leu440Ile) c.292C>A (p.Leu98Ile) | ClinVar dbSNP |
2 | g.111997379C= | CA1279566552 | MERTK | c.1507C= (p.Leu503=) c.979C= (p.Leu327=) c.*980C= (n.*980C=) n.10C= c.476C= (p.Ala159=) c.1318C= (p.Leu440=) c.292C= (p.Leu98=) | |
2 | g.111997379C>G | CA348231272 | MERTK | c.1507C>G (p.Leu503Val) c.979C>G (p.Leu327Val) c.*980C>G (n.*980C>G) n.10C>G c.476C>G (p.Ala159Gly) c.1318C>G (p.Leu440Val) c.292C>G (p.Leu98Val) | |
2 | g.111997379C>T | CA348231274 | MERTK | c.1507C>T (p.Leu503Phe) c.979C>T (p.Leu327Phe) c.*980C>T (n.*980C>T) n.10C>T c.476C>T (p.Ala159Val) c.1318C>T (p.Leu440Phe) c.292C>T (p.Leu98Phe) | |
2 | g.111997380T>A | CA348231279 | MERTK | c.1508T>A (p.Leu503His) c.980T>A (p.Leu327His) c.*981T>A (n.*981T>A) n.11T>A c.477T>A (p.Ala159=) c.1319T>A (p.Leu440His) c.293T>A (p.Leu98His) | |
2 | g.111997380T>C | CA348231277 | MERTK | c.1508T>C (p.Leu503Pro) c.980T>C (p.Leu327Pro) c.*981T>C (n.*981T>C) n.11T>C c.477T>C (p.Ala159=) c.1319T>C (p.Leu440Pro) c.293T>C (p.Leu98Pro) | |
2 | g.111997380T>G | CA348231276 | MERTK | c.1508T>G (p.Leu503Arg) c.980T>G (p.Leu327Arg) c.*981T>G (n.*981T>G) n.11T>G c.477T>G (p.Ala159=) c.1319T>G (p.Leu440Arg) c.293T>G (p.Leu98Arg) | |
2 | g.111997381C>A | CA348231280 | MERTK | c.1509C>A (p.Leu503=) c.981C>A (p.Leu327=) c.*982C>A (n.*982C>A) n.12C>A c.478C>A (p.His160Asn) c.1320C>A (p.Leu440=) c.294C>A (p.Leu98=) | |
2 | g.111997381C= | CA1279566553 | MERTK | c.1509C= (p.Leu503=) c.981C= (p.Leu327=) c.*982C= (n.*982C=) n.12C= c.478C= (p.His160=) c.1320C= (p.Leu440=) c.294C= (p.Leu98=) | |
2 | g.111997381C>G | CA348231282 | MERTK | c.1509C>G (p.Leu503=) c.981C>G (p.Leu327=) c.*982C>G (n.*982C>G) n.12C>G c.478C>G (p.His160Asp) c.1320C>G (p.Leu440=) c.294C>G (p.Leu98=) | |
2 | g.111997381C>T | CA1831449 | MERTK | c.1509C>T (p.Leu503=) c.981C>T (p.Leu327=) c.*982C>T (n.*982C>T) n.12C>T c.478C>T (p.His160Tyr) c.1320C>T (p.Leu440=) c.294C>T (p.Leu98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997382A= | CA1279566554 | MERTK | c.1510A= (p.Ile504=) c.982A= (p.Ile328=) c.*983A= (n.*983A=) n.13A= c.479A= (p.His160=) c.1321A= (p.Ile441=) c.295A= (p.Ile99=) | |
2 | g.111997382A>C | CA348231284 | MERTK | c.1510A>C (p.Ile504Leu) c.982A>C (p.Ile328Leu) c.*983A>C (n.*983A>C) n.13A>C c.479A>C (p.His160Pro) c.1321A>C (p.Ile441Leu) c.295A>C (p.Ile99Leu) | |
2 | g.111997382A>G | CA1831450 | MERTK | c.1510A>G (p.Ile504Val) c.982A>G (p.Ile328Val) c.*983A>G (n.*983A>G) n.13A>G c.479A>G (p.His160Arg) c.1321A>G (p.Ile441Val) c.295A>G (p.Ile99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997382A>T | CA348231287 | MERTK | c.1510A>T (p.Ile504Phe) c.982A>T (p.Ile328Phe) c.*983A>T (n.*983A>T) n.13A>T c.479A>T (p.His160Leu) c.1321A>T (p.Ile441Phe) c.295A>T (p.Ile99Phe) | |
2 | g.111997383T>A | CA348231289 | MERTK | c.1511T>A (p.Ile504Asn) c.983T>A (p.Ile328Asn) c.*984T>A (n.*984T>A) n.14T>A c.480T>A (p.His160Gln) c.1322T>A (p.Ile441Asn) c.296T>A (p.Ile99Asn) | |
2 | g.111997383T>C | CA348231290 | MERTK | c.1511T>C (p.Ile504Thr) c.983T>C (p.Ile328Thr) c.*984T>C (n.*984T>C) n.14T>C c.480T>C (p.His160=) c.1322T>C (p.Ile441Thr) c.296T>C (p.Ile99Thr) | |
2 | g.111997383T>G | CA348231292 | MERTK | c.1511T>G (p.Ile504Ser) c.983T>G (p.Ile328Ser) c.*984T>G (n.*984T>G) n.14T>G c.480T>G (p.His160Gln) c.1322T>G (p.Ile441Ser) c.296T>G (p.Ile99Ser) | |
2 | g.111997383T= | CA1279566555 | MERTK | c.1511T= (p.Ile504=) c.983T= (p.Ile328=) c.*984T= (n.*984T=) n.14T= c.480T= (p.His160=) c.1322T= (p.Ile441=) c.296T= (p.Ile99=) | |
2 | g.111997384C>A | CA348231294 | MERTK | c.1512C>A (p.Ile504=) c.984C>A (p.Ile328=) c.*985C>A (n.*985C>A) n.15C>A c.481C>A (p.His161Asn) c.1323C>A (p.Ile441=) c.297C>A (p.Ile99=) | gnomAD v4 |
2 | g.111997384C>G | CA348231296 | MERTK | c.1512C>G (p.Ile504Met) c.984C>G (p.Ile328Met) c.*985C>G (n.*985C>G) n.15C>G c.481C>G (p.His161Asp) c.1323C>G (p.Ile441Met) c.297C>G (p.Ile99Met) | gnomAD v4 |
2 | g.111997384C>T | CA348231297 | MERTK | c.1512C>T (p.Ile504=) c.984C>T (p.Ile328=) c.*985C>T (n.*985C>T) n.15C>T c.481C>T (p.His161Tyr) c.1323C>T (p.Ile441=) c.297C>T (p.Ile99=) | gnomAD v4 |
2 | g.111997385_111997393dup | CA1279566556 | MERTK | c.1513_1521dup (p.Gly507_Cys508insIlePheGly) c.985_993dup (p.Gly331_Cys332insIlePheGly) c.*986_*994dup (n.*986_*994dup) n.16_24dup c.482_490dup (p.Trp163_Leu164insHisLeuTrp) c.1324_1332dup (p.Gly444_Cys445insIlePheGly) c.298_306dup (p.Gly102_Cys103insIlePheGly) | ClinVar dbSNP |
2 | g.111997385A= | CA1279566557 | MERTK | c.1513A= (p.Ile505=) c.985A= (p.Ile329=) c.*986A= (n.*986A=) n.16A= c.482A= (p.His161=) c.1324A= (p.Ile442=) c.298A= (p.Ile100=) | |
2 | g.111997385A>C | CA348231300 | MERTK | c.1513A>C (p.Ile505Leu) c.985A>C (p.Ile329Leu) c.*986A>C (n.*986A>C) n.16A>C c.482A>C (p.His161Pro) c.1324A>C (p.Ile442Leu) c.298A>C (p.Ile100Leu) | |
2 | g.111997385A>G | CA348231299 | MERTK | c.1513A>G (p.Ile505Val) c.985A>G (p.Ile329Val) c.*986A>G (n.*986A>G) n.16A>G c.482A>G (p.His161Arg) c.1324A>G (p.Ile442Val) c.298A>G (p.Ile100Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997385A>T | CA348231298 | MERTK | c.1513A>T (p.Ile505Phe) c.985A>T (p.Ile329Phe) c.*986A>T (n.*986A>T) n.16A>T c.482A>T (p.His161Leu) c.1324A>T (p.Ile442Phe) c.298A>T (p.Ile100Phe) | |
2 | g.111997386T>A | CA348231301 | MERTK | c.1514T>A (p.Ile505Asn) c.986T>A (p.Ile329Asn) c.*987T>A (n.*987T>A) n.17T>A c.483T>A (p.His161Gln) c.1325T>A (p.Ile442Asn) c.299T>A (p.Ile100Asn) | |
2 | g.111997386T>C | CA1831451 | MERTK | c.1514T>C (p.Ile505Thr) c.986T>C (p.Ile329Thr) c.*987T>C (n.*987T>C) n.17T>C c.483T>C (p.His161=) c.1325T>C (p.Ile442Thr) c.299T>C (p.Ile100Thr) | dbSNP ExAC gnomAD v2 |
2 | g.111997386T>G | CA348231303 | MERTK | c.1514T>G (p.Ile505Ser) c.986T>G (p.Ile329Ser) c.*987T>G (n.*987T>G) n.17T>G c.483T>G (p.His161Gln) c.1325T>G (p.Ile442Ser) c.299T>G (p.Ile100Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997386T= | CA1279566558 | MERTK | c.1514T= (p.Ile505=) c.986T= (p.Ile329=) c.*987T= (n.*987T=) n.17T= c.483T= (p.His161=) c.1325T= (p.Ile442=) c.299T= (p.Ile100=) | |
2 | g.111997387C>A | CA348231305 | MERTK | c.1515C>A (p.Ile505=) c.987C>A (p.Ile329=) c.*988C>A (n.*988C>A) n.18C>A c.484C>A (p.Leu162Ile) c.1326C>A (p.Ile442=) c.300C>A (p.Ile100=) | dbSNP gnomAD v4 |
2 | g.111997387C= | CA1279566559 | MERTK | c.1515C= (p.Ile505=) c.987C= (p.Ile329=) c.*988C= (n.*988C=) n.18C= c.484C= (p.Leu162=) c.1326C= (p.Ile442=) c.300C= (p.Ile100=) | |
2 | g.111997387C>G | CA348231307 | MERTK | c.1515C>G (p.Ile505Met) c.987C>G (p.Ile329Met) c.*988C>G (n.*988C>G) n.18C>G c.484C>G (p.Leu162Val) c.1326C>G (p.Ile442Met) c.300C>G (p.Ile100Met) | |
2 | g.111997387C>T | CA348231308 | MERTK | c.1515C>T (p.Ile505=) c.987C>T (p.Ile329=) c.*988C>T (n.*988C>T) n.18C>T c.484C>T (p.Leu162Phe) c.1326C>T (p.Ile442=) c.300C>T (p.Ile100=) | |
2 | g.111997388T>A | CA348231310 | MERTK | c.1516T>A (p.Phe506Ile) c.988T>A (p.Phe330Ile) c.*989T>A (n.*989T>A) n.19T>A c.485T>A (p.Leu162His) c.1327T>A (p.Phe443Ile) c.301T>A (p.Phe101Ile) | |
2 | g.111997388T>C | CA348231311 | MERTK | c.1516T>C (p.Phe506Leu) c.988T>C (p.Phe330Leu) c.*989T>C (n.*989T>C) n.19T>C c.485T>C (p.Leu162Pro) c.1327T>C (p.Phe443Leu) c.301T>C (p.Phe101Leu) | |
2 | g.111997388T>G | CA1831452 | MERTK | c.1516T>G (p.Phe506Val) c.988T>G (p.Phe330Val) c.*989T>G (n.*989T>G) n.19T>G c.485T>G (p.Leu162Arg) c.1327T>G (p.Phe443Val) c.301T>G (p.Phe101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997388T= | CA1279566560 | MERTK | c.1516T= (p.Phe506=) c.988T= (p.Phe330=) c.*989T= (n.*989T=) n.19T= c.485T= (p.Leu162=) c.1327T= (p.Phe443=) c.301T= (p.Phe101=) | |
2 | g.111997389T>A | CA348231314 | MERTK | c.1517T>A (p.Phe506Tyr) c.989T>A (p.Phe330Tyr) c.*990T>A (n.*990T>A) n.20T>A c.486T>A (p.Leu162=) c.1328T>A (p.Phe443Tyr) c.302T>A (p.Phe101Tyr) | |
2 | g.111997389T>C | CA348231315 | MERTK | c.1517T>C (p.Phe506Ser) c.989T>C (p.Phe330Ser) c.*990T>C (n.*990T>C) n.20T>C c.486T>C (p.Leu162=) c.1328T>C (p.Phe443Ser) c.302T>C (p.Phe101Ser) | ClinVar |
2 | g.111997389T>G | CA348231316 | MERTK | c.1517T>G (p.Phe506Cys) c.989T>G (p.Phe330Cys) c.*990T>G (n.*990T>G) n.20T>G c.486T>G (p.Leu162=) c.1328T>G (p.Phe443Cys) c.302T>G (p.Phe101Cys) | |
2 | g.111997390T>A | CA348231322 | MERTK | c.1518T>A (p.Phe506Leu) c.990T>A (p.Phe330Leu) c.*991T>A (n.*991T>A) n.21T>A c.487T>A (p.Trp163Arg) c.1329T>A (p.Phe443Leu) c.303T>A (p.Phe101Leu) | |
2 | g.111997390T>C | CA348231320 | MERTK | c.1518T>C (p.Phe506=) c.990T>C (p.Phe330=) c.*991T>C (n.*991T>C) n.21T>C c.487T>C (p.Trp163Arg) c.1329T>C (p.Phe443=) c.303T>C (p.Phe101=) | |
2 | g.111997390T>G | CA348231319 | MERTK | c.1518T>G (p.Phe506Leu) c.990T>G (p.Phe330Leu) c.*991T>G (n.*991T>G) n.21T>G c.487T>G (p.Trp163Gly) c.1329T>G (p.Phe443Leu) c.303T>G (p.Phe101Leu) | |
2 | g.111997391G>A | CA348231323 | MERTK | c.1519G>A (p.Gly507Ser) c.991G>A (p.Gly331Ser) c.*992G>A (n.*992G>A) n.22G>A c.488G>A (p.Trp163Ter) c.1330G>A (p.Gly444Ser) c.304G>A (p.Gly102Ser) | |
2 | g.111997391G>C | CA348231327 | MERTK | c.1519G>C (p.Gly507Arg) c.991G>C (p.Gly331Arg) c.*992G>C (n.*992G>C) n.22G>C c.488G>C (p.Trp163Ser) c.1330G>C (p.Gly444Arg) c.304G>C (p.Gly102Arg) | |
2 | g.111997391G>T | CA348231325 | MERTK | c.1519G>T (p.Gly507Cys) c.991G>T (p.Gly331Cys) c.*992G>T (n.*992G>T) n.22G>T c.488G>T (p.Trp163Leu) c.1330G>T (p.Gly444Cys) c.304G>T (p.Gly102Cys) | |
2 | g.111997392G>A | CA53574428 | MERTK | c.1520G>A (p.Gly507Asp) c.992G>A (p.Gly331Asp) c.*993G>A (n.*993G>A) n.23G>A c.489G>A (p.Trp163Ter) c.1331G>A (p.Gly444Asp) c.305G>A (p.Gly102Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997392G>C | CA348231329 | MERTK | c.1520G>C (p.Gly507Ala) c.992G>C (p.Gly331Ala) c.*993G>C (n.*993G>C) n.23G>C c.489G>C (p.Trp163Cys) c.1331G>C (p.Gly444Ala) c.305G>C (p.Gly102Ala) | |
2 | g.111997392G= | CA1279566561 | MERTK | c.1520G= (p.Gly507=) c.992G= (p.Gly331=) c.*993G= (n.*993G=) n.23G= c.489G= (p.Trp163=) c.1331G= (p.Gly444=) c.305G= (p.Gly102=) | |
2 | g.111997392G>T | CA348231330 | MERTK | c.1520G>T (p.Gly507Val) c.992G>T (p.Gly331Val) c.*993G>T (n.*993G>T) n.23G>T c.489G>T (p.Trp163Cys) c.1331G>T (p.Gly444Val) c.305G>T (p.Gly102Val) | gnomAD v4 |
2 | g.111997393C>A | CA348231331 | MERTK | c.1521C>A (p.Gly507=) c.993C>A (p.Gly331=) c.*994C>A (n.*994C>A) n.24C>A c.490C>A (p.Leu164Met) c.1332C>A (p.Gly444=) c.306C>A (p.Gly102=) | |
2 | g.111997393C= | CA1279566562 | MERTK | c.1521C= (p.Gly507=) c.993C= (p.Gly331=) c.*994C= (n.*994C=) n.24C= c.490C= (p.Leu164=) c.1332C= (p.Gly444=) c.306C= (p.Gly102=) | |
2 | g.111997393C>G | CA348231332 | MERTK | c.1521C>G (p.Gly507=) c.993C>G (p.Gly331=) c.*994C>G (n.*994C>G) n.24C>G c.490C>G (p.Leu164Val) c.1332C>G (p.Gly444=) c.306C>G (p.Gly102=) | |
2 | g.111997393C>T | CA428274279 | MERTK | c.1521C>T (p.Gly507=) c.993C>T (p.Gly331=) c.*994C>T (n.*994C>T) n.24C>T c.490C>T (p.Leu164=) c.1332C>T (p.Gly444=) c.306C>T (p.Gly102=) | ClinVar dbSNP gnomAD v4 |
2 | g.111997394T>A | CA348231334 | MERTK | c.1522T>A (p.Cys508Ser) c.994T>A (p.Cys332Ser) c.*995T>A (n.*995T>A) n.25T>A c.491T>A (p.Leu164Gln) c.1333T>A (p.Cys445Ser) c.307T>A (p.Cys103Ser) | |
2 | g.111997394T>C | CA348231336 | MERTK | c.1522T>C (p.Cys508Arg) c.994T>C (p.Cys332Arg) c.*995T>C (n.*995T>C) n.25T>C c.491T>C (p.Leu164Pro) c.1333T>C (p.Cys445Arg) c.307T>C (p.Cys103Arg) | |
2 | g.111997394T>G | CA348231337 | MERTK | c.1522T>G (p.Cys508Gly) c.994T>G (p.Cys332Gly) c.*995T>G (n.*995T>G) n.25T>G c.491T>G (p.Leu164Arg) c.1333T>G (p.Cys445Gly) c.307T>G (p.Cys103Gly) | |
2 | g.111997395G>A | CA348231339 | MERTK | c.1523G>A (p.Cys508Tyr) c.995G>A (p.Cys332Tyr) c.*996G>A (n.*996G>A) n.26G>A c.492G>A (p.Leu164=) c.1334G>A (p.Cys445Tyr) c.308G>A (p.Cys103Tyr) | |
2 | g.111997395G>C | CA348231341 | MERTK | c.1523G>C (p.Cys508Ser) c.995G>C (p.Cys332Ser) c.*996G>C (n.*996G>C) n.26G>C c.492G>C (p.Leu164=) c.1334G>C (p.Cys445Ser) c.308G>C (p.Cys103Ser) | |
2 | g.111997395G>T | CA348231342 | MERTK | c.1523G>T (p.Cys508Phe) c.995G>T (p.Cys332Phe) c.*996G>T (n.*996G>T) n.26G>T c.492G>T (p.Leu164=) c.1334G>T (p.Cys445Phe) c.308G>T (p.Cys103Phe) | |
2 | g.111997396C>A | CA348231347 | MERTK | c.1524C>A (p.Cys508Ter) c.996C>A (p.Cys332Ter) c.*997C>A (n.*997C>A) n.27C>A c.493C>A (p.Leu165Ile) c.1335C>A (p.Cys445Ter) c.309C>A (p.Cys103Ter) | |
2 | g.111997396C>G | CA348231344 | MERTK | c.1524C>G (p.Cys508Trp) c.996C>G (p.Cys332Trp) c.*997C>G (n.*997C>G) n.27C>G c.493C>G (p.Leu165Val) c.1335C>G (p.Cys445Trp) c.309C>G (p.Cys103Trp) | |
2 | g.111997396C>T | CA348231346 | MERTK | c.1524C>T (p.Cys508=) c.996C>T (p.Cys332=) c.*997C>T (n.*997C>T) n.27C>T c.493C>T (p.Leu165Phe) c.1335C>T (p.Cys445=) c.309C>T (p.Cys103=) | |
2 | g.111997397T>A | CA348231349 | MERTK | c.1525T>A (p.Phe509Ile) c.997T>A (p.Phe333Ile) c.*998T>A (n.*998T>A) n.28T>A c.494T>A (p.Leu165His) c.1336T>A (p.Phe446Ile) c.310T>A (p.Phe104Ile) | |
2 | g.111997397T>C | CA348231350 | MERTK | c.1525T>C (p.Phe509Leu) c.997T>C (p.Phe333Leu) c.*998T>C (n.*998T>C) n.28T>C c.494T>C (p.Leu165Pro) c.1336T>C (p.Phe446Leu) c.310T>C (p.Phe104Leu) | |
2 | g.111997397T>G | CA348231352 | MERTK | c.1525T>G (p.Phe509Val) c.997T>G (p.Phe333Val) c.*998T>G (n.*998T>G) n.28T>G c.494T>G (p.Leu165Arg) c.1336T>G (p.Phe446Val) c.310T>G (p.Phe104Val) | dbSNP |
2 | g.111997397T= | CA1279566563 | MERTK | c.1525T= (p.Phe509=) c.997T= (p.Phe333=) c.*998T= (n.*998T=) n.28T= c.494T= (p.Leu165=) c.1336T= (p.Phe446=) c.310T= (p.Phe104=) | |
2 | g.111997398T>A | CA348231354 | MERTK | c.1526T>A (p.Phe509Tyr) c.998T>A (p.Phe333Tyr) c.*999T>A (n.*999T>A) n.29T>A c.495T>A (p.Leu165=) c.1337T>A (p.Phe446Tyr) c.311T>A (p.Phe104Tyr) | |
2 | g.111997398T>C | CA348231355 | MERTK | c.1526T>C (p.Phe509Ser) c.998T>C (p.Phe333Ser) c.*999T>C (n.*999T>C) n.29T>C c.495T>C (p.Leu165=) c.1337T>C (p.Phe446Ser) c.311T>C (p.Phe104Ser) | |
2 | g.111997398T>G | CA348231357 | MERTK | c.1526T>G (p.Phe509Cys) c.998T>G (p.Phe333Cys) c.*999T>G (n.*999T>G) n.29T>G c.495T>G (p.Leu165=) c.1337T>G (p.Phe446Cys) c.311T>G (p.Phe104Cys) | |
2 | g.111997398_111997399insAC | CA2751719115 | MERTK | c.1526_1527insAC (p.Phe509LeufsTer7) c.998_999insAC (p.Phe333LeufsTer7) c.*999_*1000insAC (n.*999_*1000insAC) n.29_30insAC c.495_496insAC (p.Leu166ThrfsTer5) c.1337_1338insAC (p.Phe446LeufsTer7) c.311_312insAC (p.Phe104LeufsTer7) | |
2 | g.111997399T>A | CA348231359 | MERTK | c.1527T>A (p.Phe509Leu) c.999T>A (p.Phe333Leu) c.*1000T>A (n.*1000T>A) n.30T>A c.496T>A (p.Leu166Met) c.1338T>A (p.Phe446Leu) c.312T>A (p.Phe104Leu) | |
2 | g.111997399T>C | CA428274283 | MERTK | c.1527T>C (p.Phe509=) c.999T>C (p.Phe333=) c.*1000T>C (n.*1000T>C) n.30T>C c.496T>C (p.Leu166=) c.1338T>C (p.Phe446=) c.312T>C (p.Phe104=) | |
2 | g.111997399T>G | CA348231361 | MERTK | c.1527T>G (p.Phe509Leu) c.999T>G (p.Phe333Leu) c.*1000T>G (n.*1000T>G) n.30T>G c.496T>G (p.Leu166Val) c.1338T>G (p.Phe446Leu) c.312T>G (p.Phe104Leu) | |
2 | g.111997400T>A | CA348231363 | MERTK | c.1528T>A (p.Cys510Ser) c.1000T>A (p.Cys334Ser) c.*1001T>A (n.*1001T>A) n.31T>A c.497T>A (p.Leu166Ter) c.1339T>A (p.Cys447Ser) c.313T>A (p.Cys105Ser) | |
2 | g.111997400T>C | CA348231364 | MERTK | c.1528T>C (p.Cys510Arg) c.1000T>C (p.Cys334Arg) c.*1001T>C (n.*1001T>C) n.31T>C c.497T>C (p.Leu166Ser) c.1339T>C (p.Cys447Arg) c.313T>C (p.Cys105Arg) | |
2 | g.111997400T>G | CA348231366 | MERTK | c.1528T>G (p.Cys510Gly) c.1000T>G (p.Cys334Gly) c.*1001T>G (n.*1001T>G) n.31T>G c.497T>G (p.Leu166Trp) c.1339T>G (p.Cys447Gly) c.313T>G (p.Cys105Gly) | |
2 | g.111997401G>A | CA348231370 | MERTK | c.1529G>A (p.Cys510Tyr) c.1001G>A (p.Cys334Tyr) c.*1002G>A (n.*1002G>A) n.32G>A c.498G>A (p.Leu166=) c.1340G>A (p.Cys447Tyr) c.314G>A (p.Cys105Tyr) | dbSNP |
2 | g.111997401G>C | CA348231372 | MERTK | c.1529G>C (p.Cys510Ser) c.1001G>C (p.Cys334Ser) c.*1002G>C (n.*1002G>C) n.32G>C c.498G>C (p.Leu166Phe) c.1340G>C (p.Cys447Ser) c.314G>C (p.Cys105Ser) | |
2 | g.111997401G= | CA1279566564 | MERTK | c.1529G= (p.Cys510=) c.1001G= (p.Cys334=) c.*1002G= (n.*1002G=) n.32G= c.498G= (p.Leu166=) c.1340G= (p.Cys447=) c.314G= (p.Cys105=) | |
2 | g.111997401G>T | CA348231368 | MERTK | c.1529G>T (p.Cys510Phe) c.1001G>T (p.Cys334Phe) c.*1002G>T (n.*1002G>T) n.32G>T c.498G>T (p.Leu166Phe) c.1340G>T (p.Cys447Phe) c.314G>T (p.Cys105Phe) | |
2 | g.111997402del | CA2586969802 | MERTK | c.1530del (p.Cys510TrpfsTer5) c.1002del (p.Cys334TrpfsTer5) c.*1003del (n.*1003del) n.33del c.499del (p.Trp167GlyfsTer3) c.1341del (p.Cys447TrpfsTer5) c.315del (p.Cys105TrpfsTer5) | |
2 | g.111997402T>A | CA348231373 | MERTK | c.1530T>A (p.Cys510Ter) c.1002T>A (p.Cys334Ter) c.*1003T>A (n.*1003T>A) n.33T>A c.499T>A (p.Trp167Arg) c.1341T>A (p.Cys447Ter) c.315T>A (p.Cys105Ter) | |
2 | g.111997402T>C | CA348231374 | MERTK | c.1530T>C (p.Cys510=) c.1002T>C (p.Cys334=) c.*1003T>C (n.*1003T>C) n.33T>C c.499T>C (p.Trp167Arg) c.1341T>C (p.Cys447=) c.315T>C (p.Cys105=) | gnomAD v4 |
2 | g.111997402T>G | CA348231376 | MERTK | c.1530T>G (p.Cys510Trp) c.1002T>G (p.Cys334Trp) c.*1003T>G (n.*1003T>G) n.33T>G c.499T>G (p.Trp167Gly) c.1341T>G (p.Cys447Trp) c.315T>G (p.Cys105Trp) | |
2 | g.111997403G>A | CA348231378 | MERTK | c.1531G>A (p.Gly511Arg) c.1003G>A (p.Gly335Arg) c.*1004G>A (n.*1004G>A) n.34G>A c.500G>A (p.Trp167Ter) c.1342G>A (p.Gly448Arg) c.316G>A (p.Gly106Arg) | COSMIC COSMIC |
2 | g.111997403G>C | CA348231380 | MERTK | c.1531G>C (p.Gly511Arg) c.1003G>C (p.Gly335Arg) c.*1004G>C (n.*1004G>C) n.34G>C c.500G>C (p.Trp167Ser) c.1342G>C (p.Gly448Arg) c.316G>C (p.Gly106Arg) | |
2 | g.111997403G>T | CA348231381 | MERTK | c.1531G>T (p.Gly511Ter) c.1003G>T (p.Gly335Ter) c.*1004G>T (n.*1004G>T) n.34G>T c.500G>T (p.Trp167Leu) c.1342G>T (p.Gly448Ter) c.316G>T (p.Gly106Ter) | |
2 | g.111997404G>A | CA348231383 | MERTK | c.1532G>A (p.Gly511Glu) c.1004G>A (p.Gly335Glu) c.*1005G>A (n.*1005G>A) n.35G>A c.501G>A (p.Trp167Ter) c.1343G>A (p.Gly448Glu) c.317G>A (p.Gly106Glu) | dbSNP |
2 | g.111997404G>C | CA348231385 | MERTK | c.1532G>C (p.Gly511Ala) c.1004G>C (p.Gly335Ala) c.*1005G>C (n.*1005G>C) n.35G>C c.501G>C (p.Trp167Cys) c.1343G>C (p.Gly448Ala) c.317G>C (p.Gly106Ala) | |
2 | g.111997404G= | CA1279566565 | MERTK | c.1532G= (p.Gly511=) c.1004G= (p.Gly335=) c.*1005G= (n.*1005G=) n.35G= c.501G= (p.Trp167=) c.1343G= (p.Gly448=) c.317G= (p.Gly106=) | |
2 | g.111997404G>T | CA348231387 | MERTK | c.1532G>T (p.Gly511Val) c.1004G>T (p.Gly335Val) c.*1005G>T (n.*1005G>T) n.35G>T c.501G>T (p.Trp167Cys) c.1343G>T (p.Gly448Val) c.317G>T (p.Gly106Val) | |
2 | g.111997405A= | CA1279566566 | MERTK | c.1533A= (p.Gly511=) c.1005A= (p.Gly335=) c.*1006A= (n.*1006A=) n.36A= c.502A= (p.Ile168=) c.1344A= (p.Gly448=) c.318A= (p.Gly106=) | |
2 | g.111997405A>C | CA348231388 | MERTK | c.1533A>C (p.Gly511=) c.1005A>C (p.Gly335=) c.*1006A>C (n.*1006A>C) n.36A>C c.502A>C (p.Ile168Leu) c.1344A>C (p.Gly448=) c.318A>C (p.Gly106=) | |
2 | g.111997405A>G | CA1831453 | MERTK | c.1533A>G (p.Gly511=) c.1005A>G (p.Gly335=) c.*1006A>G (n.*1006A>G) n.36A>G c.502A>G (p.Ile168Val) c.1344A>G (p.Gly448=) c.318A>G (p.Gly106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997405A>T | CA348231391 | MERTK | c.1533A>T (p.Gly511=) c.1005A>T (p.Gly335=) c.*1006A>T (n.*1006A>T) n.36A>T c.502A>T (p.Ile168Phe) c.1344A>T (p.Gly448=) c.318A>T (p.Gly106=) | |
2 | g.111997406T>A | CA348231394 | MERTK | c.1534T>A (p.Phe512Ile) c.1006T>A (p.Phe336Ile) c.*1007T>A (n.*1007T>A) n.37T>A c.503T>A (p.Ile168Asn) c.1345T>A (p.Phe449Ile) c.319T>A (p.Phe107Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997406T>C | CA348231396 | MERTK | c.1534T>C (p.Phe512Leu) c.1006T>C (p.Phe336Leu) c.*1007T>C (n.*1007T>C) n.37T>C c.503T>C (p.Ile168Thr) c.1345T>C (p.Phe449Leu) c.319T>C (p.Phe107Leu) | COSMIC COSMIC |
2 | g.111997406T>G | CA348231393 | MERTK | c.1534T>G (p.Phe512Val) c.1006T>G (p.Phe336Val) c.*1007T>G (n.*1007T>G) n.37T>G c.503T>G (p.Ile168Ser) c.1345T>G (p.Phe449Val) c.319T>G (p.Phe107Val) | |
2 | g.111997406T= | CA1279566567 | MERTK | c.1534T= (p.Phe512=) c.1006T= (p.Phe336=) c.*1007T= (n.*1007T=) n.37T= c.503T= (p.Ile168=) c.1345T= (p.Phe449=) c.319T= (p.Phe107=) | |
2 | g.111997407T>A | CA348231398 | MERTK | c.1535T>A (p.Phe512Tyr) c.1007T>A (p.Phe336Tyr) c.*1008T>A (n.*1008T>A) n.38T>A c.504T>A (p.Ile168=) c.1346T>A (p.Phe449Tyr) c.320T>A (p.Phe107Tyr) | |
2 | g.111997407T>C | CA348231400 | MERTK | c.1535T>C (p.Phe512Ser) c.1007T>C (p.Phe336Ser) c.*1008T>C (n.*1008T>C) n.38T>C c.504T>C (p.Ile168=) c.1346T>C (p.Phe449Ser) c.320T>C (p.Phe107Ser) | |
2 | g.111997407T>G | CA348231401 | MERTK | c.1535T>G (p.Phe512Cys) c.1007T>G (p.Phe336Cys) c.*1008T>G (n.*1008T>G) n.38T>G c.504T>G (p.Ile168Met) c.1346T>G (p.Phe449Cys) c.320T>G (p.Phe107Cys) | |
2 | g.111997408T>A | CA348231403 | MERTK | c.1536T>A (p.Phe512Leu) c.1008T>A (p.Phe336Leu) c.*1009T>A (n.*1009T>A) n.39T>A c.504+1T>A (n.504+1T>A) c.1347T>A (p.Phe449Leu) c.321T>A (p.Phe107Leu) | |
2 | g.111997408T>C | CA1831454 | MERTK | c.1536T>C (p.Phe512=) c.1008T>C (p.Phe336=) c.*1009T>C (n.*1009T>C) n.39T>C c.504+1T>C (n.504+1T>C) c.1347T>C (p.Phe449=) c.321T>C (p.Phe107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997408T>G | CA348231405 | MERTK | c.1536T>G (p.Phe512Leu) c.1008T>G (p.Phe336Leu) c.*1009T>G (n.*1009T>G) n.39T>G c.504+1T>G (n.504+1T>G) c.1347T>G (p.Phe449Leu) c.321T>G (p.Phe107Leu) | |
2 | g.111997408T= | CA1279566568 | MERTK | c.1536T= (p.Phe512=) c.1008T= (p.Phe336=) c.*1009T= (n.*1009T=) n.39T= c.504+1T= (n.504+1T=) c.1347T= (p.Phe449=) c.321T= (p.Phe107=) | |
2 | g.111997409A>C | CA348231410 | MERTK | c.1537A>C (p.Ile513Leu) c.1009A>C (p.Ile337Leu) c.*1010A>C (n.*1010A>C) n.40A>C c.505-3A>C (n.505-3A>C) c.1348A>C (p.Ile450Leu) c.322A>C (p.Ile108Leu) | |
2 | g.111997409A>G | CA348231407 | MERTK | c.1537A>G (p.Ile513Val) c.1009A>G (p.Ile337Val) c.*1010A>G (n.*1010A>G) n.40A>G c.505-3A>G (n.505-3A>G) c.1348A>G (p.Ile450Val) c.322A>G (p.Ile108Val) | |
2 | g.111997409A>T | CA348231408 | MERTK | c.1537A>T (p.Ile513Phe) c.1009A>T (p.Ile337Phe) c.*1010A>T (n.*1010A>T) n.40A>T c.505-3A>T (n.505-3A>T) c.1348A>T (p.Ile450Phe) c.322A>T (p.Ile108Phe) | |
2 | g.111997410T>A | CA348231411 | MERTK | c.1538T>A (p.Ile513Asn) c.1010T>A (p.Ile337Asn) c.*1011T>A (n.*1011T>A) n.41T>A c.505-2T>A (n.505-2T>A) c.1349T>A (p.Ile450Asn) c.323T>A (p.Ile108Asn) | |
2 | g.111997410T>C | CA348231412 | MERTK | c.1538T>C (p.Ile513Thr) c.1010T>C (p.Ile337Thr) c.*1011T>C (n.*1011T>C) n.41T>C c.505-2T>C (n.505-2T>C) c.1349T>C (p.Ile450Thr) c.323T>C (p.Ile108Thr) | |
2 | g.111997410T>G | CA348231413 | MERTK | c.1538T>G (p.Ile513Ser) c.1010T>G (p.Ile337Ser) c.*1011T>G (n.*1011T>G) n.41T>G c.505-2T>G (n.505-2T>G) c.1349T>G (p.Ile450Ser) c.323T>G (p.Ile108Ser) | |
2 | g.111997411T>A | CA348231416 | MERTK | c.1539T>A (p.Ile513=) c.1011T>A (p.Ile337=) c.*1012T>A (n.*1012T>A) n.42T>A c.505-1T>A (n.505-1T>A) c.1350T>A (p.Ile450=) c.324T>A (p.Ile108=) | |
2 | g.111997411T>C | CA348231417 | MERTK | c.1539T>C (p.Ile513=) c.1011T>C (p.Ile337=) c.*1012T>C (n.*1012T>C) n.42T>C c.505-1T>C (n.505-1T>C) c.1350T>C (p.Ile450=) c.324T>C (p.Ile108=) | |
2 | g.111997411T>G | CA348231419 | MERTK | c.1539T>G (p.Ile513Met) c.1011T>G (p.Ile337Met) c.*1012T>G (n.*1012T>G) n.42T>G c.505-1T>G (n.505-1T>G) c.1350T>G (p.Ile450Met) c.324T>G (p.Ile108Met) | gnomAD v4 |
2 | g.111997412T>A | CA348231420 | MERTK | c.1540T>A (p.Leu514Met) c.1012T>A (p.Leu338Met) c.*1013T>A (n.*1013T>A) n.43T>A c.505T>A (p.Leu169Met) c.1351T>A (p.Leu451Met) c.325T>A (p.Leu109Met) | |
2 | g.111997412T>C | CA428274288 | MERTK | c.1540T>C (p.Leu514=) c.1012T>C (p.Leu338=) c.*1013T>C (n.*1013T>C) n.43T>C c.505T>C (p.Leu169=) c.1351T>C (p.Leu451=) c.325T>C (p.Leu109=) | |
2 | g.111997412T>G | CA348231422 | MERTK | c.1540T>G (p.Leu514Val) c.1012T>G (p.Leu338Val) c.*1013T>G (n.*1013T>G) n.43T>G c.505T>G (p.Leu169Val) c.1351T>G (p.Leu451Val) c.325T>G (p.Leu109Val) | |
2 | g.111997413T>A | CA348231424 | MERTK | c.1541T>A (p.Leu514Ter) c.1013T>A (p.Leu338Ter) c.*1014T>A (n.*1014T>A) n.44T>A c.506T>A (p.Leu169Ter) c.1352T>A (p.Leu451Ter) c.326T>A (p.Leu109Ter) | |
2 | g.111997413T>C | CA1831455 | MERTK | c.1541T>C (p.Leu514Ser) c.1013T>C (p.Leu338Ser) c.*1014T>C (n.*1014T>C) n.44T>C c.506T>C (p.Leu169Ser) c.1352T>C (p.Leu451Ser) c.326T>C (p.Leu109Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997413T>G | CA348231425 | MERTK | c.1541T>G (p.Leu514Trp) c.1013T>G (p.Leu338Trp) c.*1014T>G (n.*1014T>G) n.44T>G c.506T>G (p.Leu169Trp) c.1352T>G (p.Leu451Trp) c.326T>G (p.Leu109Trp) | |
2 | g.111997413T= | CA1279566569 | MERTK | c.1541T= (p.Leu514=) c.1013T= (p.Leu338=) c.*1014T= (n.*1014T=) n.44T= c.506T= (p.Leu169=) c.1352T= (p.Leu451=) c.326T= (p.Leu109=) | |
2 | g.111997414G>A | CA428274289 | MERTK | c.1542G>A (p.Leu514=) c.1014G>A (p.Leu338=) c.*1015G>A (n.*1015G>A) n.45G>A c.507G>A (p.Leu169=) c.1353G>A (p.Leu451=) c.327G>A (p.Leu109=) | |
2 | g.111997414G>C | CA348231426 | MERTK | c.1542G>C (p.Leu514Phe) c.1014G>C (p.Leu338Phe) c.*1015G>C (n.*1015G>C) n.45G>C c.507G>C (p.Leu169Phe) c.1353G>C (p.Leu451Phe) c.327G>C (p.Leu109Phe) | gnomAD v4 |
2 | g.111997414G>T | CA348231427 | MERTK | c.1542G>T (p.Leu514Phe) c.1014G>T (p.Leu338Phe) c.*1015G>T (n.*1015G>T) n.45G>T c.507G>T (p.Leu169Phe) c.1353G>T (p.Leu451Phe) c.327G>T (p.Leu109Phe) | gnomAD v4 |
2 | g.111997415A>C | CA348231428 | MERTK | c.1543A>C (p.Ile515Leu) c.1015A>C (p.Ile339Leu) c.*1016A>C (n.*1016A>C) n.46A>C c.508A>C (p.Ile170Leu) c.1354A>C (p.Ile452Leu) c.328A>C (p.Ile110Leu) | |
2 | g.111997415A>G | CA348231429 | MERTK | c.1543A>G (p.Ile515Val) c.1015A>G (p.Ile339Val) c.*1016A>G (n.*1016A>G) n.46A>G c.508A>G (p.Ile170Val) c.1354A>G (p.Ile452Val) c.328A>G (p.Ile110Val) | gnomAD v4 |
2 | g.111997415A>T | CA348231430 | MERTK | c.1543A>T (p.Ile515Phe) c.1015A>T (p.Ile339Phe) c.*1016A>T (n.*1016A>T) n.46A>T c.508A>T (p.Ile170Phe) c.1354A>T (p.Ile452Phe) c.328A>T (p.Ile110Phe) | gnomAD v4 |
2 | g.111997416T>A | CA348231431 | MERTK | c.1544T>A (p.Ile515Asn) c.1016T>A (p.Ile339Asn) c.*1017T>A (n.*1017T>A) n.47T>A c.509T>A (p.Ile170Asn) c.1355T>A (p.Ile452Asn) c.329T>A (p.Ile110Asn) | |
2 | g.111997416T>C | CA348231432 | MERTK | c.1544T>C (p.Ile515Thr) c.1016T>C (p.Ile339Thr) c.*1017T>C (n.*1017T>C) n.47T>C c.509T>C (p.Ile170Thr) c.1355T>C (p.Ile452Thr) c.329T>C (p.Ile110Thr) | |
2 | g.111997416T>G | CA348231433 | MERTK | c.1544T>G (p.Ile515Ser) c.1016T>G (p.Ile339Ser) c.*1017T>G (n.*1017T>G) n.47T>G c.509T>G (p.Ile170Ser) c.1355T>G (p.Ile452Ser) c.329T>G (p.Ile110Ser) | COSMIC |
2 | g.111997417T>A | CA428274291 | MERTK | c.1545T>A (p.Ile515=) c.1017T>A (p.Ile339=) c.*1018T>A (n.*1018T>A) n.48T>A c.510T>A (p.Ile170=) c.1356T>A (p.Ile452=) c.330T>A (p.Ile110=) | |
2 | g.111997417T>C | CA428274292 | MERTK | c.1545T>C (p.Ile515=) c.1017T>C (p.Ile339=) c.*1018T>C (n.*1018T>C) n.48T>C c.510T>C (p.Ile170=) c.1356T>C (p.Ile452=) c.330T>C (p.Ile110=) | gnomAD v4 |
2 | g.111997417T>G | CA348231434 | MERTK | c.1545T>G (p.Ile515Met) c.1017T>G (p.Ile339Met) c.*1018T>G (n.*1018T>G) n.48T>G c.510T>G (p.Ile170Met) c.1356T>G (p.Ile452Met) c.330T>G (p.Ile110Met) | gnomAD v4 |
2 | g.111997418G>A | CA348231435 | MERTK | c.1546G>A (p.Gly516Arg) c.1018G>A (p.Gly340Arg) c.*1019G>A (n.*1019G>A) n.49G>A c.511G>A (p.Gly171Arg) c.1357G>A (p.Gly453Arg) c.331G>A (p.Gly111Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.111997418G>C | CA348231437 | MERTK | c.1546G>C (p.Gly516Arg) c.1018G>C (p.Gly340Arg) c.*1019G>C (n.*1019G>C) n.49G>C c.511G>C (p.Gly171Arg) c.1357G>C (p.Gly453Arg) c.331G>C (p.Gly111Arg) | |
2 | g.111997418G= | CA1279566570 | MERTK | c.1546G= (p.Gly516=) c.1018G= (p.Gly340=) c.*1019G= (n.*1019G=) n.49G= c.511G= (p.Gly171=) c.1357G= (p.Gly453=) c.331G= (p.Gly111=) | |
2 | g.111997418G>T | CA348231439 | MERTK | c.1546G>T (p.Gly516Trp) c.1018G>T (p.Gly340Trp) c.*1019G>T (n.*1019G>T) n.49G>T c.511G>T (p.Gly171Trp) c.1357G>T (p.Gly453Trp) c.331G>T (p.Gly111Trp) | |
2 | g.111997419G>A | CA348231444 | MERTK | c.1547G>A (p.Gly516Glu) c.1019G>A (p.Gly340Glu) c.*1020G>A (n.*1020G>A) n.50G>A c.512G>A (p.Gly171Glu) c.1358G>A (p.Gly453Glu) c.332G>A (p.Gly111Glu) | |
2 | g.111997419G>C | CA348231442 | MERTK | c.1547G>C (p.Gly516Ala) c.1019G>C (p.Gly340Ala) c.*1020G>C (n.*1020G>C) n.50G>C c.512G>C (p.Gly171Ala) c.1358G>C (p.Gly453Ala) c.332G>C (p.Gly111Ala) | |
2 | g.111997419G>T | CA348231440 | MERTK | c.1547G>T (p.Gly516Val) c.1019G>T (p.Gly340Val) c.*1020G>T (n.*1020G>T) n.50G>T c.512G>T (p.Gly171Val) c.1358G>T (p.Gly453Val) c.332G>T (p.Gly111Val) | |
2 | g.111997420G>A | CA1831456 | MERTK | c.1548G>A (p.Gly516=) c.1020G>A (p.Gly340=) c.*1021G>A (n.*1021G>A) n.51G>A c.513G>A (p.Gly171=) c.1359G>A (p.Gly453=) c.333G>A (p.Gly111=) | dbSNP ExAC gnomAD v2 |
2 | g.111997420G>C | CA428274296 | MERTK | c.1548G>C (p.Gly516=) c.1020G>C (p.Gly340=) c.*1021G>C (n.*1021G>C) n.51G>C c.513G>C (p.Gly171=) c.1359G>C (p.Gly453=) c.333G>C (p.Gly111=) | |
2 | g.111997420G= | CA1279566571 | MERTK | c.1548G= (p.Gly516=) c.1020G= (p.Gly340=) c.*1021G= (n.*1021G=) n.51G= c.513G= (p.Gly171=) c.1359G= (p.Gly453=) c.333G= (p.Gly111=) | |
2 | g.111997420G>T | CA428274298 | MERTK | c.1548G>T (p.Gly516=) c.1020G>T (p.Gly340=) c.*1021G>T (n.*1021G>T) n.51G>T c.513G>T (p.Gly171=) c.1359G>T (p.Gly453=) c.333G>T (p.Gly111=) | |
2 | g.111997421T>A | CA348231446 | MERTK | c.1549T>A (p.Leu517Met) c.1021T>A (p.Leu341Met) c.*1022T>A (n.*1022T>A) n.52T>A c.514T>A (p.Leu172Met) c.1360T>A (p.Leu454Met) c.334T>A (p.Leu112Met) | COSMIC |
2 | g.111997421T>C | CA1831457 | MERTK | c.1549T>C (p.Leu517=) c.1021T>C (p.Leu341=) c.*1022T>C (n.*1022T>C) n.52T>C c.514T>C (p.Leu172=) c.1360T>C (p.Leu454=) c.334T>C (p.Leu112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997421T>G | CA348231449 | MERTK | c.1549T>G (p.Leu517Val) c.1021T>G (p.Leu341Val) c.*1022T>G (n.*1022T>G) n.52T>G c.514T>G (p.Leu172Val) c.1360T>G (p.Leu454Val) c.334T>G (p.Leu112Val) | |
2 | g.111997421T= | CA1279566572 | MERTK | c.1549T= (p.Leu517=) c.1021T= (p.Leu341=) c.*1022T= (n.*1022T=) n.52T= c.514T= (p.Leu172=) c.1360T= (p.Leu454=) c.334T= (p.Leu112=) | |
2 | g.111997422T>A | CA348231450 | MERTK | c.1550T>A (p.Leu517Ter) c.1022T>A (p.Leu341Ter) c.*1023T>A (n.*1023T>A) n.53T>A c.515T>A (p.Leu172Ter) c.1361T>A (p.Leu454Ter) c.335T>A (p.Leu112Ter) | |
2 | g.111997422T>C | CA348231452 | MERTK | c.1550T>C (p.Leu517Ser) c.1022T>C (p.Leu341Ser) c.*1023T>C (n.*1023T>C) n.53T>C c.515T>C (p.Leu172Ser) c.1361T>C (p.Leu454Ser) c.335T>C (p.Leu112Ser) | |
2 | g.111997422T>G | CA348231454 | MERTK | c.1550T>G (p.Leu517Trp) c.1022T>G (p.Leu341Trp) c.*1023T>G (n.*1023T>G) n.53T>G c.515T>G (p.Leu172Trp) c.1361T>G (p.Leu454Trp) c.335T>G (p.Leu112Trp) | |
2 | g.111997423G>A | CA428274301 | MERTK | c.1551G>A (p.Leu517=) c.1023G>A (p.Leu341=) c.*1024G>A (n.*1024G>A) n.54G>A c.516G>A (p.Leu172=) c.1362G>A (p.Leu454=) c.336G>A (p.Leu112=) | |
2 | g.111997423G>C | CA348231455 | MERTK | c.1551G>C (p.Leu517Phe) c.1023G>C (p.Leu341Phe) c.*1024G>C (n.*1024G>C) n.54G>C c.516G>C (p.Leu172Phe) c.1362G>C (p.Leu454Phe) c.336G>C (p.Leu112Phe) | |
2 | g.111997423G>T | CA348231457 | MERTK | c.1551G>T (p.Leu517Phe) c.1023G>T (p.Leu341Phe) c.*1024G>T (n.*1024G>T) n.54G>T c.516G>T (p.Leu172Phe) c.1362G>T (p.Leu454Phe) c.336G>T (p.Leu112Phe) | |
2 | g.111997424A= | CA1279566573 | MERTK | c.1552A= (p.Ile518=) c.1024A= (p.Ile342=) c.*1025A= (n.*1025A=) n.55A= c.517A= (p.Ile173=) c.1363A= (p.Ile455=) c.337A= (p.Ile113=) | |
2 | g.111997424A>C | CA348231458 | MERTK | c.1552A>C (p.Ile518Leu) c.1024A>C (p.Ile342Leu) c.*1025A>C (n.*1025A>C) n.55A>C c.517A>C (p.Ile173Leu) c.1363A>C (p.Ile455Leu) c.337A>C (p.Ile113Leu) | |
2 | g.111997424A>G | CA1831458 | MERTK | c.1552A>G (p.Ile518Val) c.1024A>G (p.Ile342Val) c.*1025A>G (n.*1025A>G) n.55A>G c.517A>G (p.Ile173Val) c.1363A>G (p.Ile455Val) c.337A>G (p.Ile113Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997424A>T | CA348231460 | MERTK | c.1552A>T (p.Ile518Phe) c.1024A>T (p.Ile342Phe) c.*1025A>T (n.*1025A>T) n.55A>T c.517A>T (p.Ile173Phe) c.1363A>T (p.Ile455Phe) c.337A>T (p.Ile113Phe) | dbSNP COSMIC |
2 | g.111997425T>A | CA348231464 | MERTK | c.1553T>A (p.Ile518Asn) c.1025T>A (p.Ile342Asn) c.*1026T>A (n.*1026T>A) n.56T>A c.518T>A (p.Ile173Asn) c.1364T>A (p.Ile455Asn) c.338T>A (p.Ile113Asn) | |
2 | g.111997425T>C | CA348231465 | MERTK | c.1553T>C (p.Ile518Thr) c.1025T>C (p.Ile342Thr) c.*1026T>C (n.*1026T>C) n.56T>C c.518T>C (p.Ile173Thr) c.1364T>C (p.Ile455Thr) c.338T>C (p.Ile113Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997425T>G | CA348231462 | MERTK | c.1553T>G (p.Ile518Ser) c.1025T>G (p.Ile342Ser) c.*1026T>G (n.*1026T>G) n.56T>G c.518T>G (p.Ile173Ser) c.1364T>G (p.Ile455Ser) c.338T>G (p.Ile113Ser) | |
2 | g.111997425T= | CA1279566574 | MERTK | c.1553T= (p.Ile518=) c.1025T= (p.Ile342=) c.*1026T= (n.*1026T=) n.56T= c.518T= (p.Ile173=) c.1364T= (p.Ile455=) c.338T= (p.Ile113=) | |
2 | g.111997426T>A | CA428274303 | MERTK | c.1554T>A (p.Ile518=) c.1026T>A (p.Ile342=) c.*1027T>A (n.*1027T>A) n.57T>A c.519T>A (p.Ile173=) c.1365T>A (p.Ile455=) c.339T>A (p.Ile113=) | |
2 | g.111997426T>C | CA428274304 | MERTK | c.1554T>C (p.Ile518=) c.1026T>C (p.Ile342=) c.*1027T>C (n.*1027T>C) n.57T>C c.519T>C (p.Ile173=) c.1365T>C (p.Ile455=) c.339T>C (p.Ile113=) | |
2 | g.111997426T>G | CA348231467 | MERTK | c.1554T>G (p.Ile518Met) c.1026T>G (p.Ile342Met) c.*1027T>G (n.*1027T>G) n.57T>G c.519T>G (p.Ile173Met) c.1365T>G (p.Ile455Met) c.339T>G (p.Ile113Met) | |
2 | g.111997427T>A | CA348231468 | MERTK | c.1555T>A (p.Leu519Ile) c.1027T>A (p.Leu343Ile) c.*1028T>A (n.*1028T>A) n.58T>A c.520T>A (p.Leu174Ile) c.1366T>A (p.Leu456Ile) c.340T>A (p.Leu114Ile) | gnomAD v4 |
2 | g.111997427T>C | CA428274307 | MERTK | c.1555T>C (p.Leu519=) c.1027T>C (p.Leu343=) c.*1028T>C (n.*1028T>C) n.58T>C c.520T>C (p.Leu174=) c.1366T>C (p.Leu456=) c.340T>C (p.Leu114=) | |
2 | g.111997427T>G | CA348231469 | MERTK | c.1555T>G (p.Leu519Val) c.1027T>G (p.Leu343Val) c.*1028T>G (n.*1028T>G) n.58T>G c.520T>G (p.Leu174Val) c.1366T>G (p.Leu456Val) c.340T>G (p.Leu114Val) | |
2 | g.111997428T>A | CA348231471 | MERTK | c.1556T>A (p.Leu519Ter) c.1028T>A (p.Leu343Ter) c.*1029T>A (n.*1029T>A) n.59T>A c.521T>A (p.Leu174Ter) c.1367T>A (p.Leu456Ter) c.341T>A (p.Leu114Ter) | |
2 | g.111997428T>C | CA348231472 | MERTK | c.1556T>C (p.Leu519Ser) c.1028T>C (p.Leu343Ser) c.*1029T>C (n.*1029T>C) n.59T>C c.521T>C (p.Leu174Ser) c.1367T>C (p.Leu456Ser) c.341T>C (p.Leu114Ser) | |
2 | g.111997428T>G | CA348231473 | MERTK | c.1556T>G (p.Leu519Ter) c.1028T>G (p.Leu343Ter) c.*1029T>G (n.*1029T>G) n.59T>G c.521T>G (p.Leu174Ter) c.1367T>G (p.Leu456Ter) c.341T>G (p.Leu114Ter) | |
2 | g.111997429A= | CA1279566575 | MERTK | c.1557A= (p.Leu519=) c.1029A= (p.Leu343=) c.*1030A= (n.*1030A=) n.60A= c.522A= (p.Leu174=) c.1368A= (p.Leu456=) c.342A= (p.Leu114=) | |
2 | g.111997429A>C | CA348231475 | MERTK | c.1557A>C (p.Leu519Phe) c.1029A>C (p.Leu343Phe) c.*1030A>C (n.*1030A>C) n.60A>C c.522A>C (p.Leu174Phe) c.1368A>C (p.Leu456Phe) c.342A>C (p.Leu114Phe) | |
2 | g.111997429A>G | CA428274308 | MERTK | c.1557A>G (p.Leu519=) c.1029A>G (p.Leu343=) c.*1030A>G (n.*1030A>G) n.60A>G c.522A>G (p.Leu174=) c.1368A>G (p.Leu456=) c.342A>G (p.Leu114=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997429A>T | CA348231477 | MERTK | c.1557A>T (p.Leu519Phe) c.1029A>T (p.Leu343Phe) c.*1030A>T (n.*1030A>T) n.60A>T c.522A>T (p.Leu174Phe) c.1368A>T (p.Leu456Phe) c.342A>T (p.Leu114Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997430T>A | CA348231479 | MERTK | c.1558T>A (p.Tyr520Asn) c.1030T>A (p.Tyr344Asn) c.*1031T>A (n.*1031T>A) n.61T>A c.523T>A (p.Tyr175Asn) c.1369T>A (p.Tyr457Asn) c.343T>A (p.Tyr115Asn) | |
2 | g.111997430T>C | CA348231480 | MERTK | c.1558T>C (p.Tyr520His) c.1030T>C (p.Tyr344His) c.*1031T>C (n.*1031T>C) n.61T>C c.523T>C (p.Tyr175His) c.1369T>C (p.Tyr457His) c.343T>C (p.Tyr115His) | |
2 | g.111997430T>G | CA348231481 | MERTK | c.1558T>G (p.Tyr520Asp) c.1030T>G (p.Tyr344Asp) c.*1031T>G (n.*1031T>G) n.61T>G c.523T>G (p.Tyr175Asp) c.1369T>G (p.Tyr457Asp) c.343T>G (p.Tyr115Asp) | |
2 | g.111997431A= | CA1279566576 | MERTK | c.1559A= (p.Tyr520=) c.1031A= (p.Tyr344=) c.*1032A= (n.*1032A=) n.62A= c.524A= (p.Tyr175=) c.1370A= (p.Tyr457=) c.344A= (p.Tyr115=) | |
2 | g.111997431A>C | CA348231483 | MERTK | c.1559A>C (p.Tyr520Ser) c.1031A>C (p.Tyr344Ser) c.*1032A>C (n.*1032A>C) n.62A>C c.524A>C (p.Tyr175Ser) c.1370A>C (p.Tyr457Ser) c.344A>C (p.Tyr115Ser) | |
2 | g.111997431A>G | CA1831459 | MERTK | c.1559A>G (p.Tyr520Cys) c.1031A>G (p.Tyr344Cys) c.*1032A>G (n.*1032A>G) n.62A>G c.524A>G (p.Tyr175Cys) c.1370A>G (p.Tyr457Cys) c.344A>G (p.Tyr115Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.111997431A>T | CA348231486 | MERTK | c.1559A>T (p.Tyr520Phe) c.1031A>T (p.Tyr344Phe) c.*1032A>T (n.*1032A>T) n.62A>T c.524A>T (p.Tyr175Phe) c.1370A>T (p.Tyr457Phe) c.344A>T (p.Tyr115Phe) | |
2 | g.111997432C>A | CA348231488 | MERTK | c.1560C>A (p.Tyr520Ter) c.1032C>A (p.Tyr344Ter) c.*1033C>A (n.*1033C>A) n.63C>A c.525C>A (p.Tyr175Ter) c.1371C>A (p.Tyr457Ter) c.345C>A (p.Tyr115Ter) | |
2 | g.111997432C= | CA1279566577 | MERTK | c.1560C= (p.Tyr520=) c.1032C= (p.Tyr344=) c.*1033C= (n.*1033C=) n.63C= c.525C= (p.Tyr175=) c.1371C= (p.Tyr457=) c.345C= (p.Tyr115=) | |
2 | g.111997432C>G | CA348231489 | MERTK | c.1560C>G (p.Tyr520Ter) c.1032C>G (p.Tyr344Ter) c.*1033C>G (n.*1033C>G) n.63C>G c.525C>G (p.Tyr175Ter) c.1371C>G (p.Tyr457Ter) c.345C>G (p.Tyr115Ter) | |
2 | g.111997432C>T | CA428274310 | MERTK | c.1560C>T (p.Tyr520=) c.1032C>T (p.Tyr344=) c.*1033C>T (n.*1033C>T) n.63C>T c.525C>T (p.Tyr175=) c.1371C>T (p.Tyr457=) c.345C>T (p.Tyr115=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997433A= | CA1279566578 | MERTK | c.1561A= (p.Ile521=) c.1033A= (p.Ile345=) c.*1034A= (n.*1034A=) n.64A= c.526A= (p.Ile176=) c.1372A= (p.Ile458=) c.346A= (p.Ile116=) | |
2 | g.111997433A>C | CA348231491 | MERTK | c.1561A>C (p.Ile521Leu) c.1033A>C (p.Ile345Leu) c.*1034A>C (n.*1034A>C) n.64A>C c.526A>C (p.Ile176Leu) c.1372A>C (p.Ile458Leu) c.346A>C (p.Ile116Leu) | |
2 | g.111997433A>G | CA348231492 | MERTK | c.1561A>G (p.Ile521Val) c.1033A>G (p.Ile345Val) c.*1034A>G (n.*1034A>G) n.64A>G c.526A>G (p.Ile176Val) c.1372A>G (p.Ile458Val) c.346A>G (p.Ile116Val) | dbSNP |
2 | g.111997433A>T | CA348231494 | MERTK | c.1561A>T (p.Ile521Phe) c.1033A>T (p.Ile345Phe) c.*1034A>T (n.*1034A>T) n.64A>T c.526A>T (p.Ile176Phe) c.1372A>T (p.Ile458Phe) c.346A>T (p.Ile116Phe) | |
2 | g.111997434T>A | CA348231496 | MERTK | c.1562T>A (p.Ile521Asn) c.1034T>A (p.Ile345Asn) c.*1035T>A (n.*1035T>A) n.65T>A c.527T>A (p.Ile176Asn) c.1373T>A (p.Ile458Asn) c.347T>A (p.Ile116Asn) | |
2 | g.111997434T>C | CA348231498 | MERTK | c.1562T>C (p.Ile521Thr) c.1034T>C (p.Ile345Thr) c.*1035T>C (n.*1035T>C) n.65T>C c.527T>C (p.Ile176Thr) c.1373T>C (p.Ile458Thr) c.347T>C (p.Ile116Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997434T>G | CA348231499 | MERTK | c.1562T>G (p.Ile521Ser) c.1034T>G (p.Ile345Ser) c.*1035T>G (n.*1035T>G) n.65T>G c.527T>G (p.Ile176Ser) c.1373T>G (p.Ile458Ser) c.347T>G (p.Ile116Ser) | |
2 | g.111997434T= | CA1279566579 | MERTK | c.1562T= (p.Ile521=) c.1034T= (p.Ile345=) c.*1035T= (n.*1035T=) n.65T= c.527T= (p.Ile176=) c.1373T= (p.Ile458=) c.347T= (p.Ile116=) | |
2 | g.111997435C>A | CA428274314 | MERTK | c.1563C>A (p.Ile521=) c.1035C>A (p.Ile345=) c.*1036C>A (n.*1036C>A) n.66C>A c.528C>A (p.Ile176=) c.1374C>A (p.Ile458=) c.348C>A (p.Ile116=) | |
2 | g.111997435C>G | CA348231501 | MERTK | c.1563C>G (p.Ile521Met) c.1035C>G (p.Ile345Met) c.*1036C>G (n.*1036C>G) n.66C>G c.528C>G (p.Ile176Met) c.1374C>G (p.Ile458Met) c.348C>G (p.Ile116Met) | |
2 | g.111997435C>T | CA428274315 | MERTK | c.1563C>T (p.Ile521=) c.1035C>T (p.Ile345=) c.*1036C>T (n.*1036C>T) n.66C>T c.528C>T (p.Ile176=) c.1374C>T (p.Ile458=) c.348C>T (p.Ile116=) | gnomAD v4 |
2 | g.111997436T>A | CA348231502 | MERTK | c.1564T>A (p.Ser522Thr) c.1036T>A (p.Ser346Thr) c.*1037T>A (n.*1037T>A) n.67T>A c.529T>A (p.Ser177Thr) c.1375T>A (p.Ser459Thr) c.349T>A (p.Ser117Thr) | |
2 | g.111997436T>C | CA348231503 | MERTK | c.1564T>C (p.Ser522Pro) c.1036T>C (p.Ser346Pro) c.*1037T>C (n.*1037T>C) n.67T>C c.529T>C (p.Ser177Pro) c.1375T>C (p.Ser459Pro) c.349T>C (p.Ser117Pro) | |
2 | g.111997436T>G | CA348231505 | MERTK | c.1564T>G (p.Ser522Ala) c.1036T>G (p.Ser346Ala) c.*1037T>G (n.*1037T>G) n.67T>G c.529T>G (p.Ser177Ala) c.1375T>G (p.Ser459Ala) c.349T>G (p.Ser117Ala) | |
2 | g.111997437C>A | CA348231507 | MERTK | c.1565C>A (p.Ser522Tyr) c.1037C>A (p.Ser346Tyr) c.*1038C>A (n.*1038C>A) n.68C>A c.530C>A (p.Ser177Tyr) c.1376C>A (p.Ser459Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
2 | g.111997437C= | CA1279566580 | MERTK | c.1565C= (p.Ser522=) c.1037C= (p.Ser346=) c.*1038C= (n.*1038C=) n.68C= c.530C= (p.Ser177=) c.1376C= (p.Ser459=) c.350C= (p.Ser117=) | |
2 | g.111997437C>G | CA348231508 | MERTK | c.1565C>G (p.Ser522Cys) c.1037C>G (p.Ser346Cys) c.*1038C>G (n.*1038C>G) n.68C>G c.530C>G (p.Ser177Cys) c.1376C>G (p.Ser459Cys) c.350C>G (p.Ser117Cys) | |
2 | g.111997437C>T | CA1831460 | MERTK | c.1565C>T (p.Ser522Phe) c.1037C>T (p.Ser346Phe) c.*1038C>T (n.*1038C>T) n.68C>T c.530C>T (p.Ser177Phe) c.1376C>T (p.Ser459Phe) c.350C>T (p.Ser117Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.111997438C>A | CA428274317 | MERTK | c.1566C>A (p.Ser522=) c.1038C>A (p.Ser346=) c.*1039C>A (n.*1039C>A) n.69C>A c.531C>A (p.Ser177=) c.1377C>A (p.Ser459=) c.351C>A (p.Ser117=) | |
2 | g.111997438C>G | CA428274318 | MERTK | c.1566C>G (p.Ser522=) c.1038C>G (p.Ser346=) c.*1039C>G (n.*1039C>G) n.69C>G c.531C>G (p.Ser177=) c.1377C>G (p.Ser459=) c.351C>G (p.Ser117=) | |
2 | g.111997438C>T | CA428274319 | MERTK | c.1566C>T (p.Ser522=) c.1038C>T (p.Ser346=) c.*1039C>T (n.*1039C>T) n.69C>T c.531C>T (p.Ser177=) c.1377C>T (p.Ser459=) c.351C>T (p.Ser117=) | COSMIC |
2 | g.111997439T>A | CA348231511 | MERTK | c.1567T>A (p.Leu523Met) c.1039T>A (p.Leu347Met) c.*1040T>A (n.*1040T>A) n.70T>A c.532T>A (p.Leu178Met) c.1378T>A (p.Leu460Met) c.352T>A (p.Leu118Met) | |
2 | g.111997439T>C | CA428274320 | MERTK | c.1567T>C (p.Leu523=) c.1039T>C (p.Leu347=) c.*1040T>C (n.*1040T>C) n.70T>C c.532T>C (p.Leu178=) c.1378T>C (p.Leu460=) c.352T>C (p.Leu118=) | |
2 | g.111997439T>G | CA348231512 | MERTK | c.1567T>G (p.Leu523Val) c.1039T>G (p.Leu347Val) c.*1040T>G (n.*1040T>G) n.70T>G c.532T>G (p.Leu178Val) c.1378T>G (p.Leu460Val) c.352T>G (p.Leu118Val) | |
2 | g.111997440T>A | CA348231514 | MERTK | c.1568T>A (p.Leu523Ter) c.1040T>A (p.Leu347Ter) c.*1041T>A (n.*1041T>A) n.71T>A c.533T>A (p.Leu178Ter) c.1379T>A (p.Leu460Ter) c.353T>A (p.Leu118Ter) | COSMIC COSMIC |
2 | g.111997440T>C | CA348231517 | MERTK | c.1568T>C (p.Leu523Ser) c.1040T>C (p.Leu347Ser) c.*1041T>C (n.*1041T>C) n.71T>C c.533T>C (p.Leu178Ser) c.1379T>C (p.Leu460Ser) c.353T>C (p.Leu118Ser) | |
2 | g.111997440T>G | CA348231515 | MERTK | c.1568T>G (p.Leu523Trp) c.1040T>G (p.Leu347Trp) c.*1041T>G (n.*1041T>G) n.71T>G c.533T>G (p.Leu178Trp) c.1379T>G (p.Leu460Trp) c.353T>G (p.Leu118Trp) | |
2 | g.111997440_111997441insA | CA2751719123 | MERTK | c.1568_1569insA (p.Ala524GlyfsTer21) c.1040_1041insA (p.Ala348GlyfsTer21) c.*1041_*1042insA (n.*1041_*1042insA) n.71_72insA c.533_534insA (p.Ala179GlyfsTer21) c.1379_1380insA (p.Ala461GlyfsTer21) c.353_354insA (p.Ala119GlyfsTer21) | |
2 | g.111997441G>A | CA428274323 | MERTK | c.1569G>A (p.Leu523=) c.1041G>A (p.Leu347=) c.*1042G>A (n.*1042G>A) n.72G>A c.534G>A (p.Leu178=) c.1380G>A (p.Leu460=) c.354G>A (p.Leu118=) | gnomAD v4 |
2 | g.111997441G>C | CA348231519 | MERTK | c.1569G>C (p.Leu523Phe) c.1041G>C (p.Leu347Phe) c.*1042G>C (n.*1042G>C) n.72G>C c.534G>C (p.Leu178Phe) c.1380G>C (p.Leu460Phe) c.354G>C (p.Leu118Phe) | gnomAD v4 |
2 | g.111997441G>T | CA348231520 | MERTK | c.1569G>T (p.Leu523Phe) c.1041G>T (p.Leu347Phe) c.*1042G>T (n.*1042G>T) n.72G>T c.534G>T (p.Leu178Phe) c.1380G>T (p.Leu460Phe) c.354G>T (p.Leu118Phe) | |
2 | g.111997441_111997442insT | CA2751719124 | MERTK | c.1569_1570insT (p.Ala524CysfsTer21) c.1041_1042insT (p.Ala348CysfsTer21) c.*1042_*1043insT (n.*1042_*1043insT) n.72_73insT c.534_535insT (p.Ala179CysfsTer21) c.1380_1381insT (p.Ala461CysfsTer21) c.354_355insT (p.Ala119CysfsTer21) | |
2 | g.111997442G>A | CA348231522 | MERTK | c.1570G>A (p.Ala524Thr) c.1042G>A (p.Ala348Thr) c.*1043G>A (n.*1043G>A) n.73G>A c.535G>A (p.Ala179Thr) c.1381G>A (p.Ala461Thr) c.355G>A (p.Ala119Thr) | |
2 | g.111997442G>C | CA348231523 | MERTK | c.1570G>C (p.Ala524Pro) c.1042G>C (p.Ala348Pro) c.*1043G>C (n.*1043G>C) n.73G>C c.535G>C (p.Ala179Pro) c.1381G>C (p.Ala461Pro) c.355G>C (p.Ala119Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997442G= | CA1279566581 | MERTK | c.1570G= (p.Ala524=) c.1042G= (p.Ala348=) c.*1043G= (n.*1043G=) n.73G= c.535G= (p.Ala179=) c.1381G= (p.Ala461=) c.355G= (p.Ala119=) | |
2 | g.111997442G>T | CA348231525 | MERTK | c.1570G>T (p.Ala524Ser) c.1042G>T (p.Ala348Ser) c.*1043G>T (n.*1043G>T) n.73G>T c.535G>T (p.Ala179Ser) c.1381G>T (p.Ala461Ser) c.355G>T (p.Ala119Ser) | |
2 | g.111997443C>A | CA348231526 | MERTK | c.1571C>A (p.Ala524Asp) c.1043C>A (p.Ala348Asp) c.*1044C>A (n.*1044C>A) n.74C>A c.536C>A (p.Ala179Asp) c.1382C>A (p.Ala461Asp) c.356C>A (p.Ala119Asp) | |
2 | g.111997443C= | CA1279566582 | MERTK | c.1571C= (p.Ala524=) c.1043C= (p.Ala348=) c.*1044C= (n.*1044C=) n.74C= c.536C= (p.Ala179=) c.1382C= (p.Ala461=) c.356C= (p.Ala119=) | |
2 | g.111997443C>G | CA348231527 | MERTK | c.1571C>G (p.Ala524Gly) c.1043C>G (p.Ala348Gly) c.*1044C>G (n.*1044C>G) n.74C>G c.536C>G (p.Ala179Gly) c.1382C>G (p.Ala461Gly) c.356C>G (p.Ala119Gly) | gnomAD v4 |
2 | g.111997443C>T | CA348231529 | MERTK | c.1571C>T (p.Ala524Val) c.1043C>T (p.Ala348Val) c.*1044C>T (n.*1044C>T) n.74C>T c.536C>T (p.Ala179Val) c.1382C>T (p.Ala461Val) c.356C>T (p.Ala119Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997443_111997453del | CA2660689214 | MERTK | c.1571_1581del (p.Ala524GlufsTer17) c.1043_1053del (p.Ala348GlufsTer17) c.*1044_*1054del (n.*1044_*1054del) n.74_84del c.536_546del (p.Ala179GlufsTer17) c.1382_1392del (p.Ala461GlufsTer17) c.356_366del (p.Ala119GlufsTer17) | gnomAD v4 |
2 | g.111997444C>A | CA428274325 | MERTK | c.1572C>A (p.Ala524=) c.1044C>A (p.Ala348=) c.*1045C>A (n.*1045C>A) n.75C>A c.537C>A (p.Ala179=) c.1383C>A (p.Ala461=) c.357C>A (p.Ala119=) | |
2 | g.111997444C>G | CA428274327 | MERTK | c.1572C>G (p.Ala524=) c.1044C>G (p.Ala348=) c.*1045C>G (n.*1045C>G) n.75C>G c.537C>G (p.Ala179=) c.1383C>G (p.Ala461=) c.357C>G (p.Ala119=) | |
2 | g.111997444C>T | CA428274326 | MERTK | c.1572C>T (p.Ala524=) c.1044C>T (p.Ala348=) c.*1045C>T (n.*1045C>T) n.75C>T c.537C>T (p.Ala179=) c.1383C>T (p.Ala461=) c.357C>T (p.Ala119=) | |
2 | g.111997445A= | CA1279566583 | MERTK | c.1573A= (p.Ile525=) c.1045A= (p.Ile349=) c.*1046A= (n.*1046A=) n.76A= c.538A= (p.Ile180=) c.1384A= (p.Ile462=) c.358A= (p.Ile120=) | |
2 | g.111997445A>C | CA348231531 | MERTK | c.1573A>C (p.Ile525Leu) c.1045A>C (p.Ile349Leu) c.*1046A>C (n.*1046A>C) n.76A>C c.538A>C (p.Ile180Leu) c.1384A>C (p.Ile462Leu) c.358A>C (p.Ile120Leu) | |
2 | g.111997445A>G | CA348231532 | MERTK | c.1573A>G (p.Ile525Val) c.1045A>G (p.Ile349Val) c.*1046A>G (n.*1046A>G) n.76A>G c.538A>G (p.Ile180Val) c.1384A>G (p.Ile462Val) c.358A>G (p.Ile120Val) | dbSNP |
2 | g.111997445A>T | CA348231534 | MERTK | c.1573A>T (p.Ile525Phe) c.1045A>T (p.Ile349Phe) c.*1046A>T (n.*1046A>T) n.76A>T c.538A>T (p.Ile180Phe) c.1384A>T (p.Ile462Phe) c.358A>T (p.Ile120Phe) | |
2 | g.111997446T>A | CA1831461 | MERTK | c.1574T>A (p.Ile525Asn) c.1046T>A (p.Ile349Asn) c.*1047T>A (n.*1047T>A) n.77T>A c.539T>A (p.Ile180Asn) c.1385T>A (p.Ile462Asn) c.359T>A (p.Ile120Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997446T>C | CA348231536 | MERTK | c.1574T>C (p.Ile525Thr) c.1046T>C (p.Ile349Thr) c.*1047T>C (n.*1047T>C) n.77T>C c.539T>C (p.Ile180Thr) c.1385T>C (p.Ile462Thr) c.359T>C (p.Ile120Thr) | |
2 | g.111997446T>G | CA348231537 | MERTK | c.1574T>G (p.Ile525Ser) c.1046T>G (p.Ile349Ser) c.*1047T>G (n.*1047T>G) n.77T>G c.539T>G (p.Ile180Ser) c.1385T>G (p.Ile462Ser) c.359T>G (p.Ile120Ser) | |
2 | g.111997446T= | CA1279566584 | MERTK | c.1574T= (p.Ile525=) c.1046T= (p.Ile349=) c.*1047T= (n.*1047T=) n.77T= c.539T= (p.Ile180=) c.1385T= (p.Ile462=) c.359T= (p.Ile120=) |